2-27596110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596110
    reference: chr 2
allele count: 5
allele frequency: 4.12044896411913e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.357-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.64-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*67-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*102-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-386-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.263-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-386-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.257-4G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.182-4G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: c.257-4G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

2-27596110-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596110
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*102-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.182-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.357-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-386-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.257-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*67-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.263-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.64-4G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-386-4G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.257-4G>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

2-27596114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596114
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.64T>C
  hgvsp: ENSP00000401922.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*102T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.182T>C
  hgvsp: ENSP00000439208.1:p.Val61Ala
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.263T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.357T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.257T>C
  hgvsp: ENSP00000233575.2:p.Val86Ala
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-386T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-386T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*67T>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val86Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-27596116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596116
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596116
    reference: chr 2
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.66C>T
  hgvsp: ENST00000453453.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.259C>T
  hgvsp: ENSP00000233575.2:p.Arg87Trp
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-384C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.265C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.359C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-384C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.184C>T
  hgvsp: ENSP00000439208.1:p.Arg62Trp
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*69C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg87Trp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-27596117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596117
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.67G>A
  hgvsp: ENSP00000401922.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*70G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.260G>A
  hgvsp: ENSP00000233575.2:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-383G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.360G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.185G>A
  hgvsp: ENSP00000439208.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.266G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-383G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg87Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

2-27596120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596120
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-380A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.263A>G
  hgvsp: ENSP00000233575.2:p.Gln88Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.269A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*108A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-380A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.188A>G
  hgvsp: ENSP00000439208.1:p.Gln63Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.363A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.70A>G
  hgvsp: ENSP00000401922.1:p.Lys24Glu
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln88Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-27596142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596142
    reference: chr 2
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.210C>G
  hgvsp: ENSP00000439208.1:p.Ser70Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*130C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-358C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.92C>G
  hgvsp: ENSP00000401922.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.291C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-358C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.285C>G
  hgvsp: ENSP00000233575.2:p.Ser95Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.385C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*95C>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser95Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-27596142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596142
    reference: chr 2
allele count: 5
allele frequency: 4.121875618281343e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.285C>T
  hgvsp: ENST00000233575.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.210C>T
  hgvsp: ENST00000537606.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-358C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.92C>T
  hgvsp: ENSP00000401922.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.385C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-358C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.291C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala31Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-27596143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596143
    reference: chr 2
allele count: 402
allele frequency: 3.3139879970982e-3
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.386G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.286G>A
  hgvsp: ENSP00000233575.2:p.Glu96Lys
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*96G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.211G>A
  hgvsp: ENSP00000439208.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.93G>A
  hgvsp: ENST00000453453.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-357G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*131G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-357G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.292G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9696
  bin: 9.75e1
  variant carriers: 400
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu96Lys
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-27596146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596146
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.389A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-354A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.96A>G
  hgvsp: ENST00000453453.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*134A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.214A>G
  hgvsp: ENSP00000439208.1:p.Thr72Ala
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.289A>G
  hgvsp: ENSP00000233575.2:p.Thr97Ala
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-354A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.295A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr97Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
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: ReadPosRankSum
site quality: QD

2-27596149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596149
    reference: chr 2
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.217T>C
  hgvsp: ENSP00000439208.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.298T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.99T>C
  hgvsp: ENST00000453453.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-351T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*102T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.292T>C
  hgvsp: ENSP00000233575.2:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*137T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-351T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.392T>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe98Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27596151-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596151
    reference: chr 2
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.300C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.394C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-349C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-349C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*104C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*139C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.101C>A
  hgvsp: ENSP00000401922.1:p.Ser34Ter
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.219C>A
  hgvsp: ENSP00000439208.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.294C>A
  hgvsp: ENSP00000233575.2:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser34Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-27596151-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596151
    reference: chr 2
allele count: 3
allele frequency: 2.473614775725594e-5
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.219C>G
  hgvsp: ENSP00000439208.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-349C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*104C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.101C>G
  hgvsp: ENSP00000401922.1:p.Ser34Ter
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*139C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.294C>G
  hgvsp: ENSP00000233575.2:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-349C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.300C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.394C>G
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser34Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-27596152-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596152
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.295A>T
  hgvsp: ENSP00000233575.2:p.Asn99Tyr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*105A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.395A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.102A>T
  hgvsp: ENST00000453453.1:c.102A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-348A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.220A>T
  hgvsp: ENSP00000439208.1:p.Asn74Tyr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*140A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.301A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-348A>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn99Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-27596155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596155
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596155
    reference: chr 2
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*143A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.105A>G
  hgvsp: ENST00000453453.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.223A>G
  hgvsp: ENSP00000439208.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-345A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*108A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.304A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-345A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.298A>G
  hgvsp: ENSP00000233575.2:p.Ser100Gly
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.398A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser100Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-27596164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596164
    reference: chr 2
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.307C>T
  hgvsp: ENSP00000233575.2:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.114C>T
  hgvsp: ENST00000453453.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.313C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-336C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.407C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.232C>T
  hgvsp: ENSP00000439208.1:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-336C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg103Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-27596165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596165
    reference: chr 2
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-335G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.308G>A
  hgvsp: ENSP00000233575.2:p.Arg103His
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-335G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.115G>A
  hgvsp: ENSP00000401922.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.233G>A
  hgvsp: ENSP00000439208.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*153G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.314G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.408G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*118G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9582
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg103His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-27596168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596168
    reference: chr 2
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.317G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-332G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.236G>A
  hgvsp: ENSP00000439208.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-332G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.311G>A
  hgvsp: ENSP00000233575.2:p.Arg104Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.118G>A
  hgvsp: ENSP00000401922.1:p.Gly40Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.411G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg104Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-27596175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596175
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.125A>G
  hgvsp: ENSP00000401922.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.243A>G
  hgvsp: ENST00000537606.1:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.324A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.318A>G
  hgvsp: ENST00000233575.2:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-325A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-325A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.418A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn42Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-27596181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596181
    reference: chr 2
allele count: 4
allele frequency: 3.30234631705827e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.424A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+3A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+3A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
hgvs: c.321+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-27596190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596190
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.433G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+12G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+12G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27596191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596191
    reference: chr 2
allele count: 15
allele frequency: 1.239689912229954e-4
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.434G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+13G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+13G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS

2-27596191-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596191
    reference: chr 2
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.434G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+13G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+13G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-27596192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596192
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596192
    reference: chr 2
allele count: 3
allele frequency: 2.479379824459908e-5
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.435T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+14T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+14T>C
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

2-27596197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596197
    reference: chr 2
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+19C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.440C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+19C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-27596210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596210
    reference: chr 2
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.453A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+32A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+32A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

2-27596212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596212
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596212
    reference: chr 2
allele count: 22
allele frequency: 1.824151769427216e-4
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.455A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+34A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+34A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14125
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9275
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27596217-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596218
    reference: chr 2
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.462dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+41dupT
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+41dupT
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-27596218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596218
    reference: chr 2
allele count: 39
allele frequency: 3.239848474779026e-4
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.461T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+40T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+40T>C
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20445
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27596223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596223
    reference: chr 2
allele count: 2
allele frequency: 1.67369619066747e-5
allele num: 119496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.466G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+45G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+45G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27596224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596224
    reference: chr 2
allele count: 1
allele frequency: 8.354358468813179e-6
allele num: 119698
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.467G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+46G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+46G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-27596230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596230
    reference: chr 2
allele count: 1
allele frequency: 8.432556413802408e-6
allele num: 118588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000464279
  gene symbol: SNX17
  hgvsc: ENST00000464279.1:n.473C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.246+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.327+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-322+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-322+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*166+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*131+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.321+52C>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.128+52C>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-27596682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596682
    reference: chr 2
allele count: 1
allele frequency: 1.003190144660019e-5
allele num: 99682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.322-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.129-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*132-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-321-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.247-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*167-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.328-46C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-321-46C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18215
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-27596725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596725
    reference: chr 2
allele count: 2
allele frequency: 1.767908917332579e-5
allele num: 113128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.129-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.247-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-321-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.322-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.328-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*132-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*167-3C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-321-3C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5808
  bin: 9.75e1
  variant carriers: 2
hgvs: c.322-3C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-27596739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596739
    reference: chr 2
allele count: 1
allele frequency: 8.540147232138282e-6
allele num: 117094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.140G>A
  hgvsp: ENSP00000401922.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*178G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.258G>A
  hgvsp: ENST00000537606.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-310G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-310G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.333G>A
  hgvsp: ENST00000233575.2:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.339G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg47Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-27596748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596748
    reference: chr 2
allele count: 1
allele frequency: 8.433694295449179e-6
allele num: 118572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*152A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.267A>G
  hgvsp: ENST00000537606.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.149A>G
  hgvsp: ENSP00000401922.1:p.Gln50Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.348A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.342A>G
  hgvsp: ENST00000233575.2:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-301A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-301A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*187A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6337
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln50Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27596752-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596752
    reference: chr 2
allele count: 11
allele frequency: 9.243076095724658e-5
allele num: 119008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*191G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-297G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.352G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.271G>C
  hgvsp: ENSP00000439208.1:p.Glu91Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.346G>C
  hgvsp: ENSP00000233575.2:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-297G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.153G>C
  hgvsp: ENSP00000401922.1:p.Arg51Ser
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*156G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35255
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu116Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-27596770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596770
    reference: chr 2
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.370C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.364C>T
  hgvsp: ENST00000233575.2:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.289C>T
  hgvsp: ENST00000537606.1:c.289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.171C>T
  hgvsp: ENST00000453453.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu122Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-27596780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596780
    reference: chr 2
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.181A>G
  hgvsp: ENSP00000401922.1:p.Thr61Ala
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-269A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-269A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.374A>G
  hgvsp: ENSP00000233575.2:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*219A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.299A>G
  hgvsp: ENSP00000439208.1:p.Asn100Ser
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.380A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn125Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-27596782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596782
    reference: chr 2
allele count: 3
allele frequency: 2.486242789895909e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-267G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.382G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-267G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.376G>A
  hgvsp: ENSP00000233575.2:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.183G>A
  hgvsp: ENST00000453453.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*221G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.301G>A
  hgvsp: ENSP00000439208.1:p.Gly101Arg
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly126Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-27596787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596787
    reference: chr 2
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.188G>C
  hgvsp: ENSP00000401922.1:p.Arg63Thr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*191G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.387G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-262G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*226G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-262G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.381G>C
  hgvsp: ENSP00000233575.2:p.Gln127His
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.306G>C
  hgvsp: ENSP00000439208.1:p.Gln102His
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln127His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-27596802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596802
    reference: chr 2
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.402C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.396C>T
  hgvsp: ENST00000233575.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.321C>T
  hgvsp: ENST00000537606.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.203C>T
  hgvsp: ENSP00000401922.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr68Met
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-27596805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596805
    reference: chr 2
allele count: 13
allele frequency: 1.074184858951265e-4
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.324G>A
  hgvsp: ENST00000537606.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.399G>A
  hgvsp: ENST00000233575.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.206G>A
  hgvsp: ENSP00000401922.1:p.Cys69Tyr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.405G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-244G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-244G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys69Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-27596815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596815
    reference: chr 2
allele count: 17
allele frequency: 1.403613065160673e-4
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*254G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*219G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-234G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.415G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.334G>C
  hgvsp: ENSP00000439208.1:p.Asp112His
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-234G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.409G>C
  hgvsp: ENSP00000233575.2:p.Asp137His
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*6G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp137His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-27596815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596815
    reference: chr 2
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.409G>T
  hgvsp: ENSP00000233575.2:p.Asp137Tyr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.334G>T
  hgvsp: ENSP00000439208.1:p.Asp112Tyr
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*254G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*219G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-234G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-234G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.415G>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp137Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-27596830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596830
    reference: chr 2
allele count: 5
allele frequency: 4.126229616425695e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.349G>A
  hgvsp: ENSP00000439208.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-219G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.424G>A
  hgvsp: ENSP00000233575.2:p.Val142Ile
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.430G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-219G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val142Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-27596843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596843
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+5G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+5G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.432+5G>C
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-27596845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596845
    reference: chr 2
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+7C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+7C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
hgvs: c.432+7C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

2-27596846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596846
    reference: chr 2
allele count: 430
allele frequency: 3.548733184781712e-3
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+8G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+8G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 32895
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
hgvs: c.432+8G>A
num of homozygotes: 4
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

2-27596850-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596850
    reference: chr 2
allele count: 76
allele frequency: 6.270730540107923e-4
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+12G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+12G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 32674
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

2-27596854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596854
    reference: chr 2
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+16A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+16A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-27596862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596862
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+24C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+24C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-27596863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596863
    reference: chr 2
allele count: 3
allele frequency: 2.475778632379884e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+25C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+25C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-27596863-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596860
    reference: chr 2
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+30_357+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+30_*277+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+30_-211+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+30_*29+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+30_*242+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+30_-211+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+30_438+32delTTC
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+30_432+32delTTC
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: CCTT
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-27596864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596864
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+26C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+26C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  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: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

2-27596865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596865
    reference: chr 2
allele count: 18
allele frequency: 1.485001485001485e-4
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+27T>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+27T>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-27596870-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596870
    reference: chr 2
allele count: 3
allele frequency: 2.475288371095233e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+32C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+32C>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-27596871-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596871
    reference: chr 2
allele count: 18
allele frequency: 1.485393629311768e-4
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+33C>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+33C>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-27596871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596871
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+33C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+33C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/2-27596875-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596875
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596875
    reference: chr 2
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+37A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+37A>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-27596875-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596875
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596875
    reference: chr 2
allele count: 12
allele frequency: 9.898376666226739e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+37A>G
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+37A>G
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-27596883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596883
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+45G>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+45G>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-27596884-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596884
    reference: chr 2
allele count: 5
allele frequency: 4.122487343963854e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+46G>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+46G>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

2-27596887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596887
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*277+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*29+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.432+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.357+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-211+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-211+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*242+49C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.438+49C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-27596903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596903
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-49G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-49G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11606
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

2-27596904-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596904
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-48A>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-48A>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-27596910-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596910
    reference: chr 2
allele count: 71
allele frequency: 5.859342763299058e-4
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-42A>C
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-42A>C
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 11641
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-27596915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596915
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-37C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-37C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-27596916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596916
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596916
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-36C>T
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-36C>T
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27596918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27596918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27596918
    reference: chr 2
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl transcript: ENST00000494893
  gene symbol: SNX17
  hgvsc: ENST00000494893.1:n.439-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000401922
  ensembl transcript: ENST00000453453
  gene symbol: SNX17
  hgvsc: ENST00000453453.1:c.*30-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000439208
  ensembl transcript: ENST00000537606
  gene symbol: SNX17
  hgvsc: ENST00000537606.1:c.358-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000442567
  ensembl transcript: ENST00000542478
  gene symbol: SNX17
  hgvsc: ENST00000542478.1:c.-210-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000405399
  ensembl transcript: ENST00000427123
  gene symbol: SNX17
  hgvsc: ENST00000427123.1:c.*243-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000399727
  ensembl transcript: ENST00000440760
  gene symbol: SNX17
  hgvsc: ENST00000440760.1:c.*278-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000441779
  ensembl transcript: ENST00000543024
  gene symbol: SNX17
  hgvsc: ENST00000543024.1:c.-210-34G>A
  variant of: http://identifiers.org/hgnc/14979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115234
  ensembl protein: ENSP00000233575
  ensembl transcript: ENST00000233575
  gene symbol: SNX17
  hgvsc: ENST00000233575.2:c.433-34G>A
  variant of: http://identifiers.org/hgnc/14979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

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

GenotypeQuality
all individuals: 2658
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9553
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 2.092386e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 9567
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
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MQRankSum
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SIO_000300: 5.45e-1

BaseQRankSum
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SIO_000300: -9.31e-1

FS
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.092205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

FS
type: SiteQuality
SIO_000300: 8.417999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

Latino
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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.091921e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
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SIO_000300: -3.677e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.863e1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
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South Asian
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allele num: 16500
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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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 1.569e1

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
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SIO_000300: 2.091964e6

QD
type: SiteQuality
SIO_000300: 1.569e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 369
allele frequency: 5.53306342780027e-3
allele num: 66690
num of homozygotes: 2

African
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allele frequency: 7.707129094412332e-4
allele num: 10380
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East Asian
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Latino
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allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

Other
type: Population
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South Asian
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allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
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European (Finnish)
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allele count: 16
allele frequency: 2.419842710223836e-3
allele num: 6612
num of homozygotes: 0

ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1800
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Latino
type: Population
allele count: 0
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allele num: 11568
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele num: 10376
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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QD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66676
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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Other
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African
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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South Asian
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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: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66600
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 3
allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.07513e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.91e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.012686769082765e-5
allele num: 66526
num of homozygotes: 0

South Asian
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allele frequency: 6.075334143377885e-4
allele num: 16460
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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African
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allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.94e1

QD
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8630
num of homozygotes: 0

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

African
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Other
type: Population
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Latino
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allele frequency: 8.668515950069348e-5
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European (Non-Finnish)
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allele num: 66526
num of homozygotes: 0

South Asian
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66466
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Latino
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 3.014499743767522e-5
allele num: 66346
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.329373398555789e-3
allele num: 8586
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 2.003571e6

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.056e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.033e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 7.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

DP
type: SiteQuality
SIO_000300: 1.960454e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 38

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

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.927848445478442e-4
allele num: 66194
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.97089144936325e-3
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

DP
type: SiteQuality
SIO_000300: 1.948443e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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: 1730
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
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: 6588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.887978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 3.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 337
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GenotypeQuality
all individuals: 9242
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.885837e6

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6604
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GenotypeQuality
all individuals: 1993
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537184492882836e-5
allele num: 65054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.859587e6

VQSLOD
type: SiteQuality
SIO_000300: -3.564e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 6903
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803881953964933e-5
allele num: 55436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.635e0

DP
type: SiteQuality
SIO_000300: 1.19574e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.912e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1229
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 900
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variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.177629488401653e-5
allele num: 62940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 5.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.534e6

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2004
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GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.388143605468251e-5
allele num: 15654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.571e0

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.5991e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.301991429291656e-5
allele num: 15868
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.581e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.739e0

QD
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SIO_000300: 1.394e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.753502394041497e-4
allele num: 11278
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.631147e6

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 3.727e0

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 3.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

DP
type: SiteQuality
SIO_000300: 1.654008e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.399999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.660218e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225490196078431e-4
allele num: 16320
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African
type: Population
allele count: 0
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allele num: 10288
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East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662476e6

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

FS
type: SiteQuality
SIO_000300: 1.117e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16346
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
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MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.664267e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8652
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South Asian
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allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.974e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.668312e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12
allele frequency: 1.158524811739718e-3
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

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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GenotypeQuality
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East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.250900360144058e-4
allele num: 66640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 1.671918e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 2.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 1.671918e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10384
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.036929057337221e-4
allele num: 16464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 1.673285e6

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1069
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GenotypeQuality
all individuals: 34671
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 5.131e0

VQSLOD
type: SiteQuality
SIO_000300: -7.608e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: -6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.764e0

DP
type: SiteQuality
SIO_000300: 1.674365e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.89e0

FS
type: SiteQuality
SIO_000300: 1.415e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.675619e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6331
bin: 9.75e1
variant carriers: 424

South Asian
type: Population
allele count: 56
allele frequency: 3.401360544217687e-3
allele num: 16464
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
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allele count: 6
allele frequency: 5.774783445620789e-4
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 339
allele frequency: 5.086729488025929e-3
allele num: 66644
num of homozygotes: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.074279763970844e-4
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.032140691328078e-3
allele num: 6596
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.688098e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3051
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 73
allele frequency: 7.021931512120046e-3
allele num: 10396
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.68819e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 1.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6163
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GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

DP
type: SiteQuality
SIO_000300: 1.694362e6

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 235
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 6.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

DP
type: SiteQuality
SIO_000300: 1.695569e6

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

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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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

QD
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BaseQRankSum
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SIO_000300: -2.072e0

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 6.974e0

VQSLOD
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SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.695569e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
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SIO_000300: -3.451e0

FS
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.696156e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.936e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

South Asian
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allele count: 12
allele frequency: 7.27802037845706e-4
allele num: 16488
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501425270801452e-5
allele num: 66654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.697339e6

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.872e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

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
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 5.384e0

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.701393e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

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

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

South Asian
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allele count: 12
allele frequency: 7.277137659187386e-4
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505028369007235e-5
allele num: 66622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.91e1

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

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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QD
type: SiteQuality
SIO_000300: 1.91e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.702543e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-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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GenotypeQuality
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GenotypeQuality
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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: 3

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

African
type: Population
allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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Latino
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allele frequency: 1.735207357279195e-4
allele num: 11526
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South Asian
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.708264e6

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
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East Asian
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allele frequency: 1.27344292660338e-3
allele num: 8638
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2736
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.719254e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.505e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.171e0

QD
type: SiteQuality
SIO_000300: 1.421e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.720445e6

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.722896e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.73021e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

VQSLOD
type: SiteQuality
SIO_000300: -1.804e-1

FS
type: SiteQuality
SIO_000300: 7.931e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.730182e6

QD
type: SiteQuality
SIO_000300: 1.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -1.225e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 14
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variant carriers: 1

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 41

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2416
bin: 8.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.030162412993039e-3
allele num: 10344
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.056209464328609e-4
allele num: 66608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.255e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.267e0

DP
type: SiteQuality
SIO_000300: 2.73043e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.21069e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.155e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.720827e6

QD
type: SiteQuality
SIO_000300: 1.548e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.584e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 6.019e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

DP
type: SiteQuality
SIO_000300: 2.72066e6

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23785
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 2.720534e6

VQSLOD
type: SiteQuality
SIO_000300: -6.761e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

MQ
type: SiteQuality
SIO_000300: 5.988e1