17-97070-T-TCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97070
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97072
    reference: chr 17
allele count: 1
allele frequency: 1.009529962849297e-5
allele num: 99056
alternate allele: TCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.358_359dupGG
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.443_444dupGG
  hgvsp: ENSP00000460580.1:p.Lys149GlyfsTer?
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.356_357dupGG
  hgvsp: ENSP00000459716.1:p.Lys120GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.443_444dupGG
  hgvsp: ENSP00000459795.1:p.Lys149GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.356_357dupGG
  hgvsp: ENSP00000319210.8:p.Lys120GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.356_357dupGG
  hgvsp: ENSP00000438224.2:p.Lys120GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.153_154dupGG
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.443_444dupGG
  hgvsp: ENSP00000328977.7:p.Lys149GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.61_62dupGG
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.443_444dupGG
  hgvsp: ENSP00000460080.1:p.Lys149GlyfsTer19
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15355
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys149GlyfsTer19
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

17-97077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97077
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97077
    reference: chr 17
allele count: 2
allele frequency: 2.083159736688609e-5
allele num: 96008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-1G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-1G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.5e0
  variant carriers: 0
hgvs: c.439-1G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-97079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97079
    reference: chr 17
allele count: 1
allele frequency: 1.051768022045058e-5
allele num: 95078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-3C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-3C>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
hgvs: c.439-3C>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

17-97081-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97081
    reference: chr 17
allele count: 1
allele frequency: 1.059905880357824e-5
allele num: 94348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-5C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-5C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13778
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
hgvs: c.439-5C>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-97083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97083
    reference: chr 17
allele count: 1
allele frequency: 1.071237279057311e-5
allele num: 93350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-7C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
hgvs: c.439-7C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-97083-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97083
    reference: chr 17
allele count: 3
allele frequency: 3.213711837171934e-5
allele num: 93350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-7C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-7C>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18992
  bin: 2.25e1
  variant carriers: 0
hgvs: c.439-7C>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-97084-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97084
    reference: chr 17
allele count: 3
allele frequency: 3.242121644404098e-5
allele num: 92532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-8C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-8C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 3
hgvs: c.439-8C>A
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-97086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97086
    reference: chr 17
allele count: 2
allele frequency: 2.170280183171648e-5
allele num: 92154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-10C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-10C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-97086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97086
    reference: chr 17
allele count: 1
allele frequency: 1.085140091585824e-5
allele num: 92154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-10C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-10C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-97088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97088
    reference: chr 17
allele count: 1
allele frequency: 1.094067963501893e-5
allele num: 91402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-12T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-12T>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-97097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97097
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97097
    reference: chr 17
allele count: 1
allele frequency: 1.138744647900155e-5
allele num: 87816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-21C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-21C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-111659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 111659
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 32
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.*39C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-14583C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-14583C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

17-111664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 111664
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-14588G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-14588G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

17-111665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 111665
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 34
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-14589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-14589C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-97102-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97102
    reference: chr 17
allele count: 4
allele frequency: 4.649540857840288e-5
allele num: 86030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-26C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-26C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-97107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97107
    reference: chr 17
allele count: 1
allele frequency: 1.211915553724217e-5
allele num: 82514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-31G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-31G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6234
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

17-97108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97108
    reference: chr 17
allele count: 1
allele frequency: 1.26008064516129e-5
allele num: 79360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-32T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-32T>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-97112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97112
    reference: chr 17
allele count: 149
allele frequency: 1.913543780340585e-3
allele num: 77866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-36G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-36G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19181
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-97113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97113
    reference: chr 17
allele count: 4
allele frequency: 5.154506327156517e-5
allele num: 77602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-37C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-37C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19187
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-97119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97119
    reference: chr 17
allele count: 1
allele frequency: 1.330990789543736e-5
allele num: 75132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-43C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-43C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-97123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 97123
    reference: chr 17
allele count: 1
allele frequency: 1.37661408000881e-5
allele num: 72642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570893
  gene symbol: RPH3AL
  hgvsc: ENST00000570893.1:n.57-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-47G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-47G>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-111695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 111695
    reference: chr 17
allele count: 27
allele frequency: 5.625e-1
allele num: 48
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-14619C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-14619C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 7
num of homozygotes: 8
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-111755-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 111755
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.439-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.354-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.427-10T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.439-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.149-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.439-14679T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.439-14679T>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-131510-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131510
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131510
    reference: chr 17
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34434C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34434C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34434C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+49C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+49C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-131512-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131512
    reference: chr 17
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34436T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34436T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+47T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34436T>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-131516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131516
    reference: chr 17
allele count: 55852
allele frequency: 4.642958086022578e-1
allele num: 120294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34440G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34440G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+43G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34440G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 1620
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 3033
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 6412
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 798
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 4.75e1
  variant carriers: 4226
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 2.75e1
  variant carriers: 4816
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 1988
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 1314
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 4.25e1
  variant carriers: 5523
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.75e1
  variant carriers: 6434
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 2.25e1
  variant carriers: 3239
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 708
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 376
num of homozygotes: 14278
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-131521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131521
    reference: chr 17
allele count: 104
allele frequency: 8.602435150873478e-4
allele num: 120896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34445G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+38G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34445G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34445G>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19718
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-131539-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131539
    reference: chr 17
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34463G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34463G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+20G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34463G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-131539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131539
    reference: chr 17
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34463G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34463G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+20G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34463G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+20G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-131540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131540
    reference: chr 17
allele count: 17
allele frequency: 1.403566710700132e-4
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34464C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34464C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34464C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+19C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-131541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131541
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34465A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34465A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34465A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+18A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+18A>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS

17-131551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131551
    reference: chr 17
allele count: 9
allele frequency: 7.425129939773946e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34475G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34475G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34475G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+8G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+8G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: c.438+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-131552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131552
    reference: chr 17
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34476C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34476C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34476C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+7C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+7C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20832
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.438+7C>T
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-131558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131558
    reference: chr 17
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.353+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.438+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.426+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.438+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34482G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.438+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.148+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34482G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.438+1G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34482G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: c.438+1G>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-131563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131563
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131563
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.144G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.349G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34487G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.422G>A
  hgvsp: ENSP00000459666.1:p.Arg141Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.434G>A
  hgvsp: ENSP00000459795.1:p.Arg145Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.434G>A
  hgvsp: ENSP00000459992.1:p.Arg145Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34487G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.434G>A
  hgvsp: ENSP00000328977.7:p.Arg145Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.434G>A
  hgvsp: ENSP00000460580.1:p.Arg145Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.434G>A
  hgvsp: ENSP00000460080.1:p.Arg145Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34487G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg145Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-131572-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131572
    reference: chr 17
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.425G>C
  hgvsp: ENSP00000460580.1:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.425G>C
  hgvsp: ENSP00000459992.1:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34496G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.413G>C
  hgvsp: ENSP00000459666.1:p.Ser138Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.135G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.425G>C
  hgvsp: ENSP00000328977.7:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.425G>C
  hgvsp: ENSP00000459795.1:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34496G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.340G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.425G>C
  hgvsp: ENSP00000460080.1:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34496G>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser142Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-131575-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131575
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.422G>T
  hgvsp: ENSP00000328977.7:p.Cys141Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.422G>T
  hgvsp: ENSP00000459992.1:p.Cys141Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34499G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.410G>T
  hgvsp: ENSP00000459666.1:p.Cys137Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.422G>T
  hgvsp: ENSP00000460080.1:p.Cys141Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.422G>T
  hgvsp: ENSP00000459795.1:p.Cys141Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.337G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.422G>T
  hgvsp: ENSP00000460580.1:p.Cys141Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34499G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34499G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.132G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys141Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-131579-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131579
    reference: chr 17
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.128A>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.418A>T
  hgvsp: ENSP00000328977.7:p.Ile140Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34503A>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.418A>T
  hgvsp: ENSP00000460080.1:p.Ile140Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.333A>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34503A>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.418A>T
  hgvsp: ENSP00000459992.1:p.Ile140Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.418A>T
  hgvsp: ENSP00000459795.1:p.Ile140Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.418A>T
  hgvsp: ENSP00000460580.1:p.Ile140Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34503A>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.406A>T
  hgvsp: ENSP00000459666.1:p.Ile136Phe
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile140Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-131580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131580
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131580
    reference: chr 17
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.417G>A
  hgvsp: ENST00000577079.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.417G>A
  hgvsp: ENST00000331302.7:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.417G>A
  hgvsp: ENST00000573780.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.417G>A
  hgvsp: ENST00000576420.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.417G>A
  hgvsp: ENST00000570638.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.405G>A
  hgvsp: ENST00000574953.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34504G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34504G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.127G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34504G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.332G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys139Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-131585-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131585
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131585
    reference: chr 17
allele count: 33
allele frequency: 2.733371987078605e-4
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.412T>G
  hgvsp: ENSP00000328977.7:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.327T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34509T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.412T>G
  hgvsp: ENSP00000460580.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.412T>G
  hgvsp: ENSP00000459795.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34509T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.412T>G
  hgvsp: ENSP00000460080.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.412T>G
  hgvsp: ENSP00000459992.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34509T>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.400T>G
  hgvsp: ENSP00000459666.1:p.Cys134Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.122T>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16006
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys138Gly
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-131593-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131594
    reference: chr 17
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.403dupC
  hgvsp: ENSP00000328977.7:p.Leu135ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.403dupC
  hgvsp: ENSP00000460580.1:p.Leu135ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.403dupC
  hgvsp: ENSP00000459795.1:p.Leu135ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.403dupC
  hgvsp: ENSP00000460080.1:p.Leu135ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.318dupC
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.391dupC
  hgvsp: ENSP00000459666.1:p.Leu131ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.113dupC
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.403dupC
  hgvsp: ENSP00000459992.1:p.Leu135ProfsTer5
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34518dupC
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34518dupC
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34518dupC
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu135ProfsTer5
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

17-131597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131597
    reference: chr 17
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.400C>T
  hgvsp: ENSP00000460080.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.400C>T
  hgvsp: ENSP00000459795.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.400C>T
  hgvsp: ENSP00000459992.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.388C>T
  hgvsp: ENSP00000459666.1:p.Pro130Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.400C>T
  hgvsp: ENSP00000328977.7:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34521C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.110C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.400C>T
  hgvsp: ENSP00000460580.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34521C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34521C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.315C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro134Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-131599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131599
    reference: chr 17
allele count: 3
allele frequency: 2.473247704001715e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34523G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34523G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.398G>A
  hgvsp: ENSP00000460080.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.398G>A
  hgvsp: ENSP00000328977.7:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34523G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.398G>A
  hgvsp: ENSP00000459992.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.108G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.398G>A
  hgvsp: ENSP00000459795.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.398G>A
  hgvsp: ENSP00000460580.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.386G>A
  hgvsp: ENSP00000459666.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.313G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg133Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

17-131600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131600
    reference: chr 17
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.397C>T
  hgvsp: ENSP00000460580.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34524C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.397C>T
  hgvsp: ENSP00000459795.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34524C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.397C>T
  hgvsp: ENSP00000328977.7:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.397C>T
  hgvsp: ENSP00000460080.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.397C>T
  hgvsp: ENSP00000459992.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.312C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.107C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.385C>T
  hgvsp: ENSP00000459666.1:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34524C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg133Trp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-131602-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131602
    reference: chr 17
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.395A>C
  hgvsp: ENSP00000460580.1:p.Lys132Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.395A>C
  hgvsp: ENSP00000459992.1:p.Lys132Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.310A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.395A>C
  hgvsp: ENSP00000460080.1:p.Lys132Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.105A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.383A>C
  hgvsp: ENSP00000459666.1:p.Lys128Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34526A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.395A>C
  hgvsp: ENSP00000328977.7:p.Lys132Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34526A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.395A>C
  hgvsp: ENSP00000459795.1:p.Lys132Thr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34526A>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys132Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-131605-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131605
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131605
    reference: chr 17
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.392A>C
  hgvsp: ENSP00000328977.7:p.Gln131Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.392A>C
  hgvsp: ENSP00000459795.1:p.Gln131Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.392A>C
  hgvsp: ENSP00000460080.1:p.Gln131Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.380A>C
  hgvsp: ENSP00000459666.1:p.Gln127Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.307A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.102A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.392A>C
  hgvsp: ENSP00000459992.1:p.Gln131Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.392A>C
  hgvsp: ENSP00000460580.1:p.Gln131Pro
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34529A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34529A>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34529A>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln131Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-131614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131614
    reference: chr 17
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34538C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.383C>T
  hgvsp: ENSP00000459992.1:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.383C>T
  hgvsp: ENSP00000460580.1:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.383C>T
  hgvsp: ENSP00000460080.1:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34538C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.383C>T
  hgvsp: ENSP00000328977.7:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.371C>T
  hgvsp: ENSP00000459666.1:p.Ser124Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.298C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.93C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.383C>T
  hgvsp: ENSP00000459795.1:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34538C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser128Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-131617-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131617
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131617
    reference: chr 17
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.90C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.368C>A
  hgvsp: ENSP00000459666.1:p.Ala123Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.380C>A
  hgvsp: ENSP00000328977.7:p.Ala127Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34541C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.380C>A
  hgvsp: ENSP00000460080.1:p.Ala127Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.380C>A
  hgvsp: ENSP00000459992.1:p.Ala127Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.295C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.380C>A
  hgvsp: ENSP00000460580.1:p.Ala127Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34541C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.380C>A
  hgvsp: ENSP00000459795.1:p.Ala127Asp
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34541C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala127Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-131620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131620
    reference: chr 17
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.377A>G
  hgvsp: ENSP00000459992.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34544A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.377A>G
  hgvsp: ENSP00000459001.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.377A>G
  hgvsp: ENSP00000460080.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.377A>G
  hgvsp: ENSP00000459795.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34544A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.377A>G
  hgvsp: ENSP00000328977.7:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.292A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34544A>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.377A>G
  hgvsp: ENSP00000460580.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.365A>G
  hgvsp: ENSP00000459666.1:p.Glu122Gly
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.87A>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu126Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-131621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131621
    reference: chr 17
allele count: 4
allele frequency: 3.298969072164949e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.376G>A
  hgvsp: ENSP00000460580.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34545G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.376G>A
  hgvsp: ENSP00000459001.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.376G>A
  hgvsp: ENSP00000460080.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.291G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34545G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.364G>A
  hgvsp: ENSP00000459666.1:p.Glu122Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.86G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.376G>A
  hgvsp: ENSP00000459992.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.376G>A
  hgvsp: ENSP00000328977.7:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34545G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.376G>A
  hgvsp: ENSP00000459795.1:p.Glu126Lys
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu126Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-131622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131622
    reference: chr 17
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.375C>T
  hgvsp: ENST00000576420.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.375C>T
  hgvsp: ENST00000570638.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34546C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.375C>T
  hgvsp: ENST00000573780.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.363C>T
  hgvsp: ENST00000574953.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34546C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34546C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.375C>T
  hgvsp: ENST00000577079.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.375C>T
  hgvsp: ENST00000331302.7:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.85C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.375C>T
  hgvsp: ENST00000575736.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.290C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile125Ile
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-131629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131629
    reference: chr 17
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.356G>A
  hgvsp: ENSP00000459666.1:p.Cys119Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.368G>A
  hgvsp: ENSP00000459001.1:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.283G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.368G>A
  hgvsp: ENSP00000459992.1:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.368G>A
  hgvsp: ENSP00000328977.7:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34553G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34553G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.368G>A
  hgvsp: ENSP00000459795.1:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34553G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.368G>A
  hgvsp: ENSP00000460080.1:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.368G>A
  hgvsp: ENSP00000460580.1:p.Cys123Tyr
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.78G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys123Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-131640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131640
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131640
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34564C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.357C>A
  hgvsp: ENST00000577079.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.357C>A
  hgvsp: ENST00000331302.7:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.357C>A
  hgvsp: ENST00000573780.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.357C>A
  hgvsp: ENST00000575736.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.357C>A
  hgvsp: ENST00000576420.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.272C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.357C>A
  hgvsp: ENST00000570638.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34564C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.345C>A
  hgvsp: ENST00000574953.1:c.345C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34564C>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.67C>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val119Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-131647-TACAAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131641
    reference: chr 17
allele count: 4
allele frequency: 3.302946228035408e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-8_340-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-8_267-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-8_62-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-8_352-3delTCTTGT
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.352-8_352-3delTCTTGT
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TACAAGA
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-131649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131649
    reference: chr 17
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34573G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34573G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-4G>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34573G>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.352-4G>C
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

17-131654-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131654
    reference: chr 17
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34578C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34578C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34578C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-9C>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

17-131662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131662
    reference: chr 17
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34586T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34586T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34586T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-17T>C
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-131662-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131662
    reference: chr 17
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34586T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34586T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34586T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-17T>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-17T>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-131664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131664
    reference: chr 17
allele count: 1046
allele frequency: 8.657936994056981e-3
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34588C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34588C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-19C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34588C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 3.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 20057
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 41
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-131664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131664
    reference: chr 17
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34588C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34588C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-19C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34588C>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

17-131665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131665
    reference: chr 17
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34589C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-20C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-131675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131675
    reference: chr 17
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34599C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34599C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-30C>G
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34599C>G
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18256
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS

17-131684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131684
    reference: chr 17
allele count: 151
allele frequency: 1.25713905123466e-3
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34608G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34608G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-39G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34608G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16918
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-131685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131685
    reference: chr 17
allele count: 2
allele frequency: 1.666472244904761e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34609C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34609C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-40C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34609C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-131693-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131693
    reference: chr 17
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34617G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34617G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34617G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-48G>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-48G>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-131696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131696
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131696
    reference: chr 17
allele count: 12
allele frequency: 1.010015991919872e-4
allele num: 118810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34620G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-51G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34620G>A
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34620G>A
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-131697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 131697
    reference: chr 17
allele count: 9
allele frequency: 7.583034224761134e-5
allele num: 118686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.340-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000570954
  gene symbol: RPH3AL
  hgvsc: ENST00000570954.1:n.267-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.62-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.352-34621C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.352-34621C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.352-52C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.352-34621C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-169165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 169165
    reference: chr 17
allele count: 1
allele frequency: 1.073837034491646e-5
allele num: 93124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459666
  ensembl transcript: ENST00000574953
  gene symbol: RPH3AL
  hgvsc: ENST00000574953.1:c.339+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000319210
  ensembl transcript: ENST00000323434
  gene symbol: RPH3AL
  hgvsc: ENST00000323434.8:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459001
  ensembl transcript: ENST00000575736
  gene symbol: RPH3AL
  hgvsc: ENST00000575736.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000438224
  ensembl transcript: ENST00000536489
  gene symbol: RPH3AL
  hgvsc: ENST00000536489.2:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459795
  ensembl transcript: ENST00000577079
  gene symbol: RPH3AL
  hgvsc: ENST00000577079.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000328977
  ensembl transcript: ENST00000331302
  gene symbol: RPH3AL
  hgvsc: ENST00000331302.7:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459716
  ensembl transcript: ENST00000574722
  gene symbol: RPH3AL
  hgvsc: ENST00000574722.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460580
  ensembl transcript: ENST00000570638
  gene symbol: RPH3AL
  hgvsc: ENST00000570638.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000459992
  ensembl transcript: ENST00000573780
  gene symbol: RPH3AL
  hgvsc: ENST00000573780.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl transcript: ENST00000576001
  gene symbol: RPH3AL
  hgvsc: ENST00000576001.1:n.61+46C>T
  variant of: http://identifiers.org/hgnc/10296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181031
  ensembl protein: ENSP00000460080
  ensembl transcript: ENST00000576420
  gene symbol: RPH3AL
  hgvsc: ENST00000576420.1:c.351+46C>T
  variant of: http://identifiers.org/hgnc/10296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD

GenotypeQuality
all individuals: 490
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26818
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724375775969099e-5
allele num: 57992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.23698e6

MQ
type: SiteQuality
SIO_000300: 5.744e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 722
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17336
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.15473441108545e-4
allele num: 8660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.766409948420829e-5
allele num: 56612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 1.174175e6

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1268
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7160
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 6.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.155261e6

QD
type: SiteQuality
SIO_000300: 2.832e1

GenotypeQuality
all individuals: 1327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

Latino
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: 5168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.137132e6

VQSLOD
type: SiteQuality
SIO_000300: -5.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3047
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18992
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.415227851684121e-4
allele num: 7066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.612e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.119394e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

GenotypeQuality
all individuals: 3047
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.618730549323298e-5
allele num: 55268
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 2.612e0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 1.119394e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 3
allele frequency: 3.562945368171022e-4
allele num: 8420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54870
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

DP
type: SiteQuality
SIO_000300: 1.101008e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.937e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.828019888856391e-5
allele num: 54704
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 1.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
SIO_000300: 1.090325e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19897
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54704
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.278e0

DP
type: SiteQuality
SIO_000300: 1.090325e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 492
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.840061826077356e-5
allele num: 54346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

FS
type: SiteQuality
SIO_000300: 3.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

DP
type: SiteQuality
SIO_000300: 1.071127e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.519e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.241927471435668e-4
allele num: 8052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

MQRankSum
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SIO_000300: -6.68e-1

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

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 count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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FS
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 0
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VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 4

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

South Asian
type: Population
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allele num: 0
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Other
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allele num: 0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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DP
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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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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.740537193281214e-5
allele num: 51676
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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MQRankSum
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ClippingRankSum
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DP
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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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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South Asian
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European (Non-Finnish)
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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MQ
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DP
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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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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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South Asian
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East Asian
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European (Finnish)
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allele num: 4200
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African
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FS
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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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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East Asian
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allele frequency: 0.0e0
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African
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allele count: 131
allele frequency: 1.785714285714286e-2
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European (Non-Finnish)
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allele frequency: 2.516461854632387e-4
allele num: 47686
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 6226
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South Asian
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Other
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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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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European (Non-Finnish)
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allele num: 47526
num of homozygotes: 0

Latino
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East Asian
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South Asian
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African
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allele num: 7304
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European (Finnish)
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Other
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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African
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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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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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 6.333333333333333e-1
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Other
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African
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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FS
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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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Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
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allele frequency: NaN
allele num: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
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South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 5.025e3

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
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SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.041e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.221e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-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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Other
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allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16118
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6390
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.2e-3

MQRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
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DP
type: SiteQuality
SIO_000300: 2.073466e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 3.424e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.875e0

QD
type: SiteQuality
SIO_000300: 2.124e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 420
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variant carriers: 257

GenotypeQuality
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variant carriers: 685

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 561

GenotypeQuality
all individuals: 1459
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variant carriers: 858

European (Finnish)
type: Population
allele count: 4091
allele frequency: 6.378235110695354e-1
allele num: 6414
num of homozygotes: 1287

South Asian
type: Population
allele count: 6477
allele frequency: 3.966319657072872e-1
allele num: 16330
num of homozygotes: 1305

African
type: Population
allele count: 1681
allele frequency: 1.620084811102544e-1
allele num: 10376
num of homozygotes: 131

Latino
type: Population
allele count: 4108
allele frequency: 3.594679733986699e-1
allele num: 11428
num of homozygotes: 726

East Asian
type: Population
allele count: 1590
allele frequency: 1.850989522700815e-1
allele num: 8590
num of homozygotes: 127

Other
type: Population
allele count: 455
allele frequency: 5.089485458612976e-1
allele num: 894
num of homozygotes: 110

European (Non-Finnish)
type: Population
allele count: 37450
allele frequency: 5.651806465244031e-1
allele num: 66262
num of homozygotes: 10592

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 2.262553e6

QD
type: SiteQuality
SIO_000300: 2.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1512
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Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.546072974644403e-4
allele num: 6468
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.274548119198827e-4
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 91
allele frequency: 1.367351845173699e-3
allele num: 66552
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.492e1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

DP
type: SiteQuality
SIO_000300: 1.937973e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1910
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6494
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.954392e6

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 1
allele frequency: 1.539882968894364e-4
allele num: 6494
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 1
allele frequency: 1.538935056940597e-4
allele num: 6498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
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East Asian
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Other
type: Population
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African
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allele count: 12
allele frequency: 1.153402537485583e-3
allele num: 10404
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South Asian
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ClippingRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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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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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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European (Non-Finnish)
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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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European (Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.73e-1

ReadPosRankSum
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QD
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MQRankSum
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DP
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FS
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SIO_000300: 1.3222e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.000390050706592e-5
allele num: 66658
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Other
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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: 8.088745088976196e-4
allele num: 8654
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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Latino
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QD
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
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European (Finnish)
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allele frequency: 1.532801961986511e-4
allele num: 6524
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South 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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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.958927e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

Other
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Latino
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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East Asian
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African
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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SIO_000300: 2.48e-1

BaseQRankSum
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VQSLOD
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SIO_000300: 2.22e0

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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FS
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ReadPosRankSum
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SIO_000300: -1.82e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 20
allele frequency: 1.953506544246923e-3
allele num: 10238
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.559089491736826e-4
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.655031295137217e-4
allele num: 66464
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -4.167e0

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.4e-3

MQ
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SIO_000300: 5.84e1

FS
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SIO_000300: 1.83027e2

DP
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SIO_000300: 1.968513e6

ReadPosRankSum
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SIO_000300: -3.319e0

MQRankSum
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SIO_000300: 4.17e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

Other
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allele count: 0
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ReadPosRankSum
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SIO_000300: 6.31e-1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.953504e6

InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
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SIO_000300: 1.84e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.24e-1

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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VQSLOD
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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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GenotypeQuality
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele num: 16510
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East Asian
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allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66710
num of homozygotes: 0

South Asian
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Latino
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num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
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European (Finnish)
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Other
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East Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
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African
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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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Latino
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allele num: 11574
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Other
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East Asian
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.49934029027228e-5
allele num: 66696
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Other
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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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East Asian
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Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
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South Asian
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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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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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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East Asian
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Latino
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

Other
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Latino
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East Asian
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MQ
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SIO_000300: 5.927e1

QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

East Asian
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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allele num: 66694
num of homozygotes: 0

FS
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele num: 8652
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South Asian
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European (Finnish)
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Latino
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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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InbreedingCoeff
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DP
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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SIO_000300: 1.076e1

DP
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SIO_000300: 1.94895e6

GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 3.850596842510589e-4
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -9.370000000000001e-1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: 8.35e-1

VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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FS
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SIO_000300: 1.496e0

ClippingRankSum
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SIO_000300: -1.239e0

MQRankSum
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SIO_000300: 1.2e0

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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African
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allele num: 10370
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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ReadPosRankSum
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SIO_000300: 6.909999999999999e-1

DP
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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SIO_000300: 1.4e-3

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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Other
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African
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East Asian
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Latino
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allele num: 11546
num of homozygotes: 0

European (Finnish)
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Other
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African
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 21
allele frequency: 2.028985507246377e-3
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.609456776755098e-4
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East Asian
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 8616
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Other
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European (Non-Finnish)
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allele num: 66492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.503e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.26e-2

DP
type: SiteQuality
SIO_000300: 1.936153e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 174
bin: 5.75e1
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GenotypeQuality
all individuals: 9588
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variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6083
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3501
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513314277117496e-5
allele num: 66470
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 5.113e0

DP
type: SiteQuality
SIO_000300: 1.913325e6

QD
type: SiteQuality
SIO_000300: 1.4e1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6074
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23371
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 2.75e1
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GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.950458357714063e-4
allele num: 10254
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.851368e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 548
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
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variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
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variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 7873
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 4146
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variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 9.75e1
variant carriers: 150

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2240
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 3.610675039246468e-3
allele num: 6370
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743071291615827e-4
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51123595505618e-4
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.945146858587823e-4
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 119
allele frequency: 1.799866900598947e-3
allele num: 66116
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.807096e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeDepth
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 1374
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 2497
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GenotypeQuality
all individuals: 2965
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GenotypeQuality
all individuals: 2654
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variant carriers: 0

GenotypeQuality
all individuals: 28
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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
all individuals: 1396
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GenotypeQuality
all individuals: 1484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1824
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variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6087
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 1.797255e6

QD
type: SiteQuality
SIO_000300: 6.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.357e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 4.329e0

VQSLOD
type: SiteQuality
SIO_000300: -2.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeDepth
all individuals: 249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 2724
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variant carriers: 0

GenotypeQuality
all individuals: 1629
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variant carriers: 0

GenotypeQuality
all individuals: 2471
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variant carriers: 0

GenotypeQuality
all individuals: 4193
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GenotypeQuality
all individuals: 6654
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variant carriers: 0

GenotypeQuality
all individuals: 6076
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GenotypeQuality
all individuals: 2262
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 3582
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variant carriers: 0

GenotypeQuality
all individuals: 2926
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variant carriers: 0

GenotypeQuality
all individuals: 2975
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variant carriers: 0

GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 13819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
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variant carriers: 0

GenotypeQuality
all individuals: 4035
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variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.649999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

DP
type: SiteQuality
SIO_000300: 1.752834e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeDepth
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 4968
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variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 6084
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1388
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GenotypeQuality
all individuals: 1614
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GenotypeQuality
all individuals: 2273
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 2928
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variant carriers: 0

GenotypeQuality
all individuals: 3010
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variant carriers: 0

GenotypeQuality
all individuals: 2163
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GenotypeQuality
all individuals: 9378
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GenotypeQuality
all individuals: 4761
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
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variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.077586206896552e-3
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.743591e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

GenotypeDepth
all individuals: 3200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
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variant carriers: 0

GenotypeQuality
all individuals: 6087
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variant carriers: 9

GenotypeQuality
all individuals: 4021
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GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 2926
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GenotypeQuality
all individuals: 9748
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GenotypeQuality
all individuals: 1594
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variant carriers: 0

GenotypeQuality
all individuals: 2413
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GenotypeQuality
all individuals: 2145
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 1818
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GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 6230
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GenotypeQuality
all individuals: 2995
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variant carriers: 0

GenotypeQuality
all individuals: 2011
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GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4754
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.919263178522438e-4
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.592914663645549e-5
allele num: 65318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.743151e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 2853
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7686
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 317
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6592
bin: 3.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.899840413405274e-5
allele num: 52636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0