19-55559791-G-GTTCAAGTCGTCAAAGTCTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559810
    reference: chr 19
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: GTTCAAGTCGTCAAAGTCTA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsp: ENSP00000465538.1:p.Trp189ArgfsTer3
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsp: ENSP00000391121.2:p.Trp189ArgfsTer3
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsp: ENSP00000291892.6:p.Trp189ArgfsTer3
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsp: ENSP00000379547.2:p.Trp118ArgfsTer3
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp189ArgfsTer3
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-55559799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559799
    reference: chr 19
allele count: 3
allele frequency: 2.485212982752622e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.343G>A
  hgvsp: ENSP00000379547.2:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.556G>A
  hgvsp: ENSP00000465538.1:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6427G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.556G>A
  hgvsp: ENSP00000391121.2:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.392G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.556G>A
  hgvsp: ENSP00000291892.6:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15090
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp186Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-55559800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559800
    reference: chr 19
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.391C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.555C>A
  hgvsp: ENSP00000291892.6:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.555C>A
  hgvsp: ENSP00000391121.2:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.555C>A
  hgvsp: ENSP00000465538.1:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6428C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*328C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.342C>A
  hgvsp: ENSP00000379547.2:p.Asp114Glu
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp185Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-55559802-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559803
    reference: chr 19
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6431dupT
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.552dupT
  hgvsp: ENSP00000291892.6:p.Asp185Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*325dupT
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.339dupT
  hgvsp: ENSP00000379547.2:p.Asp114Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.552dupT
  hgvsp: ENSP00000465538.1:p.Asp185Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.388dupT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.552dupT
  hgvsp: ENSP00000391121.2:p.Asp185Ter
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15089
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp185Ter
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: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-55559803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559803
    reference: chr 19
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.388T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.339T>C
  hgvsp: ENST00000396247.3:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.552T>C
  hgvsp: ENST00000592573.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*325T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6431T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.552T>C
  hgvsp: ENST00000415061.3:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.552T>C
  hgvsp: ENST00000291892.6:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22095
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe184Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-55559808-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559808
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559808
    reference: chr 19
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.547G>C
  hgvsp: ENSP00000465538.1:p.Asp183His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6436G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.547G>C
  hgvsp: ENSP00000291892.6:p.Asp183His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*320G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.334G>C
  hgvsp: ENSP00000379547.2:p.Asp112His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.383G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.547G>C
  hgvsp: ENSP00000391121.2:p.Asp183His
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp183His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-55559811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559811
    reference: chr 19
allele count: 2
allele frequency: 1.656561640658649e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.544A>G
  hgvsp: ENSP00000291892.6:p.Ile182Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.544A>G
  hgvsp: ENSP00000391121.2:p.Ile182Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.544A>G
  hgvsp: ENSP00000465538.1:p.Ile182Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.380A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*317A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.331A>G
  hgvsp: ENSP00000379547.2:p.Ile111Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6439A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15089
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile182Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-55559812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559812
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559812
    reference: chr 19
allele count: 3
allele frequency: 2.484801298722812e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.543C>T
  hgvsp: ENST00000415061.3:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.543C>T
  hgvsp: ENST00000592573.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.330C>T
  hgvsp: ENST00000396247.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.543C>T
  hgvsp: ENST00000291892.6:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6440C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.379C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*316C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15087
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His181His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-55559813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559813
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559813
    reference: chr 19
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6441A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.542A>G
  hgvsp: ENSP00000465538.1:p.His181Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.542A>G
  hgvsp: ENSP00000391121.2:p.His181Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.378A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.329A>G
  hgvsp: ENSP00000379547.2:p.His110Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.542A>G
  hgvsp: ENSP00000291892.6:p.His181Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*315A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His181Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-55559817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559817
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559817
    reference: chr 19
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.538G>A
  hgvsp: ENSP00000291892.6:p.Gly180Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.538G>A
  hgvsp: ENSP00000465538.1:p.Gly180Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6445G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.374G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.325G>A
  hgvsp: ENSP00000379547.2:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.538G>A
  hgvsp: ENSP00000391121.2:p.Gly180Arg
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly180Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-55559822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559822
    reference: chr 19
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.533T>C
  hgvsp: ENSP00000391121.2:p.Val178Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6450T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.320T>C
  hgvsp: ENSP00000379547.2:p.Val107Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.533T>C
  hgvsp: ENSP00000465538.1:p.Val178Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.533T>C
  hgvsp: ENSP00000291892.6:p.Val178Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.369T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*306T>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val178Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

19-55559825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559825
    reference: chr 19
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.530A>G
  hgvsp: ENSP00000391121.2:p.His177Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.366A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.317A>G
  hgvsp: ENSP00000379547.2:p.His106Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*303A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6453A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.530A>G
  hgvsp: ENSP00000291892.6:p.His177Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.530A>G
  hgvsp: ENSP00000465538.1:p.His177Arg
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His177Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-55559831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559831
    reference: chr 19
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.311T>C
  hgvsp: ENSP00000379547.2:p.Leu104Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*297T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6459T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.524T>C
  hgvsp: ENSP00000465538.1:p.Leu175Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.524T>C
  hgvsp: ENSP00000291892.6:p.Leu175Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.360T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.524T>C
  hgvsp: ENSP00000391121.2:p.Leu175Pro
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu175Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-55559836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559836
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559836
    reference: chr 19
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6464G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.306G>A
  hgvsp: ENST00000396247.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.519G>A
  hgvsp: ENST00000415061.3:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.355G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.519G>A
  hgvsp: ENST00000291892.6:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*292G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.519G>A
  hgvsp: ENST00000592573.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser173Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-55559837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559837
    reference: chr 19
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.354C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6465C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.518C>T
  hgvsp: ENSP00000291892.6:p.Ser173Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.518C>T
  hgvsp: ENSP00000391121.2:p.Ser173Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.305C>T
  hgvsp: ENSP00000379547.2:p.Ser102Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.518C>T
  hgvsp: ENSP00000465538.1:p.Ser173Leu
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser173Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-55559842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559842
    reference: chr 19
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.513C>T
  hgvsp: ENST00000592573.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.513C>T
  hgvsp: ENST00000415061.3:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.300C>T
  hgvsp: ENST00000396247.3:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.513C>T
  hgvsp: ENST00000291892.6:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6470C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*286C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.349C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn171Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-55559843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559843
    reference: chr 19
allele count: 5
allele frequency: 4.140649585106912e-5
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.512A>G
  hgvsp: ENSP00000465538.1:p.Asn171Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6471A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.299A>G
  hgvsp: ENSP00000379547.2:p.Asn100Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.512A>G
  hgvsp: ENSP00000391121.2:p.Asn171Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.348A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.512A>G
  hgvsp: ENSP00000291892.6:p.Asn171Ser
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15080
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn171Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
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: ReadPosRankSum
site quality: DP
site quality: QD

19-55559844-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559844
    reference: chr 19
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.298A>C
  hgvsp: ENSP00000379547.2:p.Asn100His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.511A>C
  hgvsp: ENSP00000465538.1:p.Asn171His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.511A>C
  hgvsp: ENSP00000291892.6:p.Asn171His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.347A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*284A>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.511A>C
  hgvsp: ENSP00000391121.2:p.Asn171His
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6472A>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn171His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-55559851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559851
    reference: chr 19
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*277G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.291G>A
  hgvsp: ENST00000396247.3:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.504G>A
  hgvsp: ENST00000291892.6:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.340G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.504G>A
  hgvsp: ENST00000415061.3:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6479G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.504G>A
  hgvsp: ENST00000592573.1:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg168Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-55559853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559853
    reference: chr 19
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6481C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.338C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.502C>T
  hgvsp: ENSP00000391121.2:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.289C>T
  hgvsp: ENSP00000379547.2:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.502C>T
  hgvsp: ENSP00000465538.1:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.502C>T
  hgvsp: ENSP00000291892.6:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg168Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-55559854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559854
    reference: chr 19
allele count: 11
allele frequency: 9.109730848861284e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.501G>A
  hgvsp: ENST00000415061.3:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.501G>A
  hgvsp: ENST00000291892.6:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.288G>A
  hgvsp: ENST00000396247.3:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6482G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.501G>A
  hgvsp: ENST00000592573.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.337G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*274G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser167Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-55559855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559855
    reference: chr 19
allele count: 122
allele frequency: 1.010351966873706e-3
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.500C>T
  hgvsp: ENSP00000391121.2:p.Ser167Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.500C>T
  hgvsp: ENSP00000291892.6:p.Ser167Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.287C>T
  hgvsp: ENSP00000379547.2:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.500C>T
  hgvsp: ENSP00000465538.1:p.Ser167Leu
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.336C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6483C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser167Leu
num of homozygotes: 3
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-55559876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559876
    reference: chr 19
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.479A>G
  hgvsp: ENSP00000291892.6:p.Lys160Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.315A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.479A>G
  hgvsp: ENSP00000465538.1:p.Lys160Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.479A>G
  hgvsp: ENSP00000391121.2:p.Lys160Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*252A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.266A>G
  hgvsp: ENSP00000379547.2:p.Lys89Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6504A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys160Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-55559884-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559883
    reference: chr 19
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.470delT
  hgvsp: ENSP00000291892.6:p.Leu157ArgfsTer5
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*243delT
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.470delT
  hgvsp: ENSP00000391121.2:p.Leu157ArgfsTer5
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.257delT
  hgvsp: ENSP00000379547.2:p.Leu86ArgfsTer5
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.306delT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6513delT
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.470delT
  hgvsp: ENSP00000465538.1:p.Leu157ArgfsTer5
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu157ArgfsTer5
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: CA
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-55559886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559886
    reference: chr 19
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.256C>T
  hgvsp: ENST00000396247.3:c.256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.469C>T
  hgvsp: ENST00000291892.6:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6514C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.305C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.469C>T
  hgvsp: ENST00000592573.1:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.469C>T
  hgvsp: ENST00000415061.3:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*242C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22125
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-55559890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559890
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559890
    reference: chr 19
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.252C>T
  hgvsp: ENST00000396247.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.465C>T
  hgvsp: ENST00000592573.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.301C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.465C>T
  hgvsp: ENST00000415061.3:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.465C>T
  hgvsp: ENST00000291892.6:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6518C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15003
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn155Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-55559892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559892
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559892
    reference: chr 19
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.463A>G
  hgvsp: ENSP00000465538.1:p.Asn155Asp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.250A>G
  hgvsp: ENSP00000379547.2:p.Asn84Asp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.463A>G
  hgvsp: ENSP00000291892.6:p.Asn155Asp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.463A>G
  hgvsp: ENSP00000391121.2:p.Asn155Asp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6520A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*236A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.299A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15002
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn155Asp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-55559894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559894
    reference: chr 19
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.461C>G
  hgvsp: ENSP00000391121.2:p.Thr154Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*234C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6522C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.461C>G
  hgvsp: ENSP00000291892.6:p.Thr154Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.297C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.461C>G
  hgvsp: ENSP00000465538.1:p.Thr154Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.248C>G
  hgvsp: ENSP00000379547.2:p.Thr83Arg
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr154Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

19-55559899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559899
    reference: chr 19
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*229C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.243C>G
  hgvsp: ENST00000396247.3:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.456C>G
  hgvsp: ENST00000592573.1:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.456C>G
  hgvsp: ENST00000415061.3:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6527C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.292C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.456C>G
  hgvsp: ENST00000291892.6:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu152Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

19-55559905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559905
    reference: chr 19
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.450C>G
  hgvsp: ENSP00000391121.2:p.His150Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.286C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.450C>G
  hgvsp: ENSP00000291892.6:p.His150Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6533C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.237C>G
  hgvsp: ENSP00000379547.2:p.His79Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.450C>G
  hgvsp: ENSP00000465538.1:p.His150Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*223C>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His150Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-55559907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559907
    reference: chr 19
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.448C>A
  hgvsp: ENSP00000291892.6:p.His150Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.448C>A
  hgvsp: ENSP00000465538.1:p.His150Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.448C>A
  hgvsp: ENSP00000391121.2:p.His150Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6535C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.235C>A
  hgvsp: ENSP00000379547.2:p.His79Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*221C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.284C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His150Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-55559918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559918
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559918
    reference: chr 19
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-9T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-9T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6546T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-9T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-9T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-9T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-9T>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-55559923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559923
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559923
    reference: chr 19
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-14C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-14C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-14C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-14C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6551C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-14C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-14C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-55559925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559925
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559925
    reference: chr 19
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-16A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-16A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6553A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-16A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-16A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-16A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-16A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

19-55559939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559939
    reference: chr 19
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-30A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-30A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6567A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-30A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-30A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-30A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-30A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-55559944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559944
    reference: chr 19
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6572A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-35A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-35A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-35A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-35A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-35A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-35A>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

19-55559949-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559951
    reference: chr 19
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-42_446-41dupAG
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-42_233-41dupAG
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-42_*219-41dupAG
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-42_446-41dupAG
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-42_282-41dupAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-42_446-41dupAG
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6579_*91-6578dupAG
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-55559949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559949
    reference: chr 19
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6577G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.446-40G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.446-40G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.233-40G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.282-40G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*219-40G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.446-40G>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-55559978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559978
    reference: chr 19
allele count: 2
allele frequency: 1.669226146758363e-5
allele num: 119816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6606G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+49G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+49G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+49G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+49G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+49G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36010
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-55559979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559979
    reference: chr 19
allele count: 6
allele frequency: 4.99608639898746e-5
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+48C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+48C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+48C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+48C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+48C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+48C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6607C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-55559989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559989
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559989
    reference: chr 19
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+38G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+38G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6617G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+38G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+38G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+38G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+38G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-55559990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559990
    reference: chr 19
allele count: 4
allele frequency: 3.332944489809522e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+37C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+37C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6618C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+37C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+37C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+37C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+37C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-55559991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559991
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559991
    reference: chr 19
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6619G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+36G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+36G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+36G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+36G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+36G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+36G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-55560000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560000
    reference: chr 19
allele count: 12
allele frequency: 9.984191696480573e-5
allele num: 120190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+27T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+27T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+27T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+27T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+27T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+27T>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6628T>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28536
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

19-55560005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560005
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560005
    reference: chr 19
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6633C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+22C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+22C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+22C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+22C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+22C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+22C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-55560016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560016
    reference: chr 19
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6644G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+11G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+11G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+11G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+11G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+11G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+11G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-55560021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560021
    reference: chr 19
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6649G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.445+6G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.232+6G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.281+6G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.445+6G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.445+6G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*218+6G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
hgvs: n.281+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

19-55560030-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560030
    reference: chr 19
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.442C>G
  hgvsp: ENSP00000291892.6:p.Leu148Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.278C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*215C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.442C>G
  hgvsp: ENSP00000391121.2:p.Leu148Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.579C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6658C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.229C>G
  hgvsp: ENSP00000379547.2:p.Leu77Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.442C>G
  hgvsp: ENSP00000465538.1:p.Leu148Val
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu148Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-55560031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560031
    reference: chr 19
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.441C>T
  hgvsp: ENST00000415061.3:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.441C>T
  hgvsp: ENST00000291892.6:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.578C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.277C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6659C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.228C>T
  hgvsp: ENST00000396247.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.441C>T
  hgvsp: ENST00000592573.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His147His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

19-55560031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560031
    reference: chr 19
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6659C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.441C>A
  hgvsp: ENSP00000465538.1:p.His147Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.277C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.228C>A
  hgvsp: ENSP00000379547.2:p.His76Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*214C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.441C>A
  hgvsp: ENSP00000291892.6:p.His147Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.441C>A
  hgvsp: ENSP00000391121.2:p.His147Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.578C>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15828
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His147Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-55560039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560039
    reference: chr 19
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.220G>A
  hgvsp: ENSP00000379547.2:p.Val74Ile
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.433G>A
  hgvsp: ENSP00000465538.1:p.Val145Ile
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*206G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.269G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.570G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.433G>A
  hgvsp: ENSP00000391121.2:p.Val145Ile
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6667G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.433G>A
  hgvsp: ENSP00000291892.6:p.Val145Ile
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val145Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-55560040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560040
    reference: chr 19
allele count: 5
allele frequency: 4.154411153763065e-5
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.432C>T
  hgvsp: ENST00000291892.6:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.219C>T
  hgvsp: ENST00000396247.3:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.569C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.268C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.432C>T
  hgvsp: ENST00000415061.3:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.432C>T
  hgvsp: ENST00000592573.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6668C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly144Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-55560054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560054
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560054
    reference: chr 19
allele count: 75
allele frequency: 6.231823847112588e-4
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.205G>A
  hgvsp: ENSP00000379547.2:p.Glu69Lys
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.555G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.418G>A
  hgvsp: ENSP00000465538.1:p.Glu140Lys
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6682G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.418G>A
  hgvsp: ENSP00000391121.2:p.Glu140Lys
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.418G>A
  hgvsp: ENSP00000291892.6:p.Glu140Lys
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*191G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.254G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30073
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu140Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-55560055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560055
    reference: chr 19
allele count: 5
allele frequency: 4.154342118382133e-5
allele num: 120356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*190C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.417C>T
  hgvsp: ENST00000415061.3:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6683C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.417C>T
  hgvsp: ENST00000291892.6:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.417C>T
  hgvsp: ENST00000592573.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.554C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.253C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.204C>T
  hgvsp: ENST00000396247.3:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe139Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-55560060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560060
    reference: chr 19
allele count: 2
allele frequency: 1.662178783950002e-5
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.412G>A
  hgvsp: ENSP00000465538.1:p.Gly138Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6688G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.412G>A
  hgvsp: ENSP00000391121.2:p.Gly138Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.248G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.549G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.199G>A
  hgvsp: ENSP00000379547.2:p.Gly67Ser
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.412G>A
  hgvsp: ENSP00000291892.6:p.Gly138Ser
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly138Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-55560060-CGTCCTCGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560051
    reference: chr 19
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.403_411delACCGAGGAC
  hgvsp: ENSP00000465538.1:p.Thr135_Asp137del
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.190_198delACCGAGGAC
  hgvsp: ENSP00000379547.2:p.Thr64_Asp66del
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.540_548delACCGAGGAC
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.403_411delACCGAGGAC
  hgvsp: ENSP00000391121.2:p.Thr135_Asp137del
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.403_411delACCGAGGAC
  hgvsp: ENSP00000291892.6:p.Thr135_Asp137del
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.239_247delACCGAGGAC
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr135_Asp137del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: CGTCCTCGGT
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

19-55560061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560061
    reference: chr 19
allele count: 5
allele frequency: 4.155792343368187e-5
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.548C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.411C>T
  hgvsp: ENST00000415061.3:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6689C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.411C>T
  hgvsp: ENST00000291892.6:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.247C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.411C>T
  hgvsp: ENST00000592573.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*184C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.198C>T
  hgvsp: ENST00000396247.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7516
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp137Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-55560067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560067
    reference: chr 19
allele count: 20
allele frequency: 1.66245511371193e-4
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*178C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.405C>T
  hgvsp: ENST00000592573.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.405C>T
  hgvsp: ENST00000291892.6:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.192C>T
  hgvsp: ENST00000396247.3:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.405C>T
  hgvsp: ENST00000415061.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.542C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.241C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6695C>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30204
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr135Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-55560071-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560071
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560071
    reference: chr 19
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6699C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.401C>A
  hgvsp: ENSP00000465538.1:p.Thr134Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.538C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.401C>A
  hgvsp: ENSP00000391121.2:p.Thr134Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.237C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.401C>A
  hgvsp: ENSP00000291892.6:p.Thr134Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.188C>A
  hgvsp: ENSP00000379547.2:p.Thr63Asn
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*174C>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr134Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-55560073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560073
    reference: chr 19
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.399G>A
  hgvsp: ENSP00000291892.6:p.Trp133Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.536G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6701G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.399G>A
  hgvsp: ENSP00000465538.1:p.Trp133Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.235G>A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.399G>A
  hgvsp: ENSP00000391121.2:p.Trp133Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.186G>A
  hgvsp: ENSP00000379547.2:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*172G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp133Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-55560076-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560076
    reference: chr 19
allele count: 3
allele frequency: 2.494719510369718e-5
allele num: 120254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.533C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.396C>A
  hgvsp: ENSP00000391121.2:p.His132Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6704C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.396C>A
  hgvsp: ENSP00000465538.1:p.His132Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.396C>A
  hgvsp: ENSP00000291892.6:p.His132Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*169C>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.183C>A
  hgvsp: ENSP00000379547.2:p.His61Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.232C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His132Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

19-55560077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560077
    reference: chr 19
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.395A>G
  hgvsp: ENSP00000465538.1:p.His132Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.395A>G
  hgvsp: ENSP00000291892.6:p.His132Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.395A>G
  hgvsp: ENSP00000391121.2:p.His132Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*168A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.182A>G
  hgvsp: ENSP00000379547.2:p.His61Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6705A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.532A>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.231A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His132Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-55560077-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560077
    reference: chr 19
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.182A>C
  hgvsp: ENSP00000379547.2:p.His61Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*168A>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.395A>C
  hgvsp: ENSP00000291892.6:p.His132Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.231A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.395A>C
  hgvsp: ENSP00000391121.2:p.His132Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.395A>C
  hgvsp: ENSP00000465538.1:p.His132Pro
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.532A>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6705A>C
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His132Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-55560080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560080
    reference: chr 19
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6708C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.179C>G
  hgvsp: ENSP00000379547.2:p.Pro60Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.392C>G
  hgvsp: ENSP00000465538.1:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.392C>G
  hgvsp: ENSP00000391121.2:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.392C>G
  hgvsp: ENSP00000291892.6:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.529C>G
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.228C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*165C>G
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro131Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-55560083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560083
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560083
    reference: chr 19
allele count: 86
allele frequency: 7.160460933857323e-4
allele num: 120104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.176G>A
  hgvsp: ENSP00000379547.2:p.Cys59Tyr
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.389G>A
  hgvsp: ENSP00000391121.2:p.Cys130Tyr
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.225G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.389G>A
  hgvsp: ENSP00000465538.1:p.Cys130Tyr
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6711G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.389G>A
  hgvsp: ENSP00000291892.6:p.Cys130Tyr
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.526G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30250
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys130Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-55560086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560086
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560086
    reference: chr 19
allele count: 2
allele frequency: 1.66536213299582e-5
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.386G>A
  hgvsp: ENSP00000465538.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.523G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.173G>A
  hgvsp: ENSP00000379547.2:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.386G>A
  hgvsp: ENSP00000391121.2:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.386G>A
  hgvsp: ENSP00000291892.6:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6714G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.222G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg129Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-55560087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560087
    reference: chr 19
allele count: 7
allele frequency: 5.828670397015721e-5
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6715C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.385C>T
  hgvsp: ENSP00000391121.2:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.385C>T
  hgvsp: ENSP00000291892.6:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.522C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.385C>T
  hgvsp: ENSP00000465538.1:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.221C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.172C>T
  hgvsp: ENSP00000379547.2:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15637
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg129Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-55560095-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560095
    reference: chr 19
allele count: 5
allele frequency: 4.171394246813055e-5
allele num: 119864
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.213G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.164G>T
  hgvsp: ENSP00000379547.2:p.Gly55Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.377G>T
  hgvsp: ENSP00000465538.1:p.Gly126Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6723G>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.377G>T
  hgvsp: ENSP00000391121.2:p.Gly126Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.377G>T
  hgvsp: ENSP00000291892.6:p.Gly126Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.514G>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*150G>T
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30284
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly126Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-55560095-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560095
    reference: chr 19
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.377G>C
  hgvsp: ENSP00000465538.1:p.Gly126Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.377G>C
  hgvsp: ENSP00000291892.6:p.Gly126Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.164G>C
  hgvsp: ENSP00000379547.2:p.Gly55Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.514G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6723G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.377G>C
  hgvsp: ENSP00000391121.2:p.Gly126Ala
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*150G>C
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.213G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly126Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-55560097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560097
    reference: chr 19
allele count: 4
allele frequency: 3.339678722906856e-5
allele num: 119772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.512G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.375G>A
  hgvsp: ENST00000592573.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6725G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.375G>A
  hgvsp: ENST00000291892.6:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.162G>A
  hgvsp: ENST00000396247.3:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.211G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.375G>A
  hgvsp: ENST00000415061.3:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala125Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-55560098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560098
    reference: chr 19
allele count: 4
allele frequency: 3.339734491107957e-5
allele num: 119770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160439
  ensembl transcript: ENST00000589605
  gene symbol: RDH13
  hgvsc: ENST00000589605.1:n.511C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.210C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6726C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.374C>T
  hgvsp: ENSP00000391121.2:p.Ala125Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.374C>T
  hgvsp: ENSP00000291892.6:p.Ala125Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.161C>T
  hgvsp: ENSP00000379547.2:p.Ala54Val
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.374C>T
  hgvsp: ENSP00000465538.1:p.Ala125Val
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala125Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-55560099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55560099
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55560099
    reference: chr 19
allele count: 3
allele frequency: 2.505553977984532e-5
allele num: 119734
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala125Thr
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15089
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2952
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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East Asian
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Other
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 3.062474479379339e-4
allele num: 9796
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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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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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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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East Asian
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Other
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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: 1.499250374812594e-5
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

South Asian
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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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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

DP
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
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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variant carriers: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
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East Asian
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Latino
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allele frequency: 8.638562543192812e-5
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66714
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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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MQ
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Latino
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South Asian
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East Asian
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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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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South Asian
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East 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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Other
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VQSLOD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 3777
bin: 8.25e1
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GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.728e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 2.026819e6

FS
type: SiteQuality
SIO_000300: 3.565e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.145e-1

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

FS
type: SiteQuality
SIO_000300: 2.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.63e1

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 2.026793e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 2.026796e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 4.145e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

FS
type: SiteQuality
SIO_000300: 1.1449e1

DP
type: SiteQuality
SIO_000300: 2.026859e6

QD
type: SiteQuality
SIO_000300: 7.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.235e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 2.026794e6

FS
type: SiteQuality
SIO_000300: 3.504e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.194e0

QD
type: SiteQuality
SIO_000300: 8.24e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 2.026752e6

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 3.05935141749949e-4
allele num: 9806
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
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SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 2.026971e6

QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.919e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.808e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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European (Finnish)
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allele count: 0
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allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 22138
bin: 6.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 3.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

DP
type: SiteQuality
SIO_000300: 2.026576e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 2953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

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
all individuals: 3777
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.957328385899814e-4
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.026804e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6429
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 118

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 8.25e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 103
allele frequency: 1.557773744706594e-2
allele num: 6612
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.697599136768276e-4
allele num: 66726
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 2.029148e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 6433
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2955
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 22152
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variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.457e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

VQSLOD
type: SiteQuality
SIO_000300: -6.25e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 1.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 2.02295e6

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 3313
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.323e0

MQ
type: SiteQuality
SIO_000300: 6.005e1

MQRankSum
type: SiteQuality
SIO_000300: -1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.022619e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.843e1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 15004
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variant carriers: 1

GenotypeQuality
all individuals: 4379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.342e0

MQRankSum
type: SiteQuality
SIO_000300: -1.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.869e0

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 2.022554e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 3310
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.898e0

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.465e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 2.022081e6

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.522e1

FS
type: SiteQuality
SIO_000300: 1.128e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.021847e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2955
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 2.02157e6

FS
type: SiteQuality
SIO_000300: 3.616e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 1.464e0

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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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: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.524e0

MQRankSum
type: SiteQuality
SIO_000300: -1.913e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 2.020206e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 2.019643e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.081e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 2.012978e6

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.697e1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

QD
type: SiteQuality
SIO_000300: 1.665e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 1.424e0

DP
type: SiteQuality
SIO_000300: 2.00818e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 20966
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.594e1

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.005291e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.691e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 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: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.983412e6

FS
type: SiteQuality
SIO_000300: 2.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

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

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.534e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.973772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.973772e6

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 377
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.052123948286476e-4
allele num: 9746
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.449e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

MQ
type: SiteQuality
SIO_000300: 5.761e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.646967e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1414
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.536249359418804e-5
allele num: 66346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.644955e6

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1934
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.323e0

FS
type: SiteQuality
SIO_000300: 3.834e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 1.636184e6

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 977
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GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.025851456709069e-4
allele num: 9748
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016318281905107e-5
allele num: 66306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 1.637322e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 4.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1910
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 2.492e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.637126e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 449
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.393404551788203e-3
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.641011e6

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

FS
type: SiteQuality
SIO_000300: 2.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.824e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 1.641008e6

QD
type: SiteQuality
SIO_000300: 9.69e0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.645748e6

FS
type: SiteQuality
SIO_000300: 2.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.647841e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.349e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 811
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.27e0

DP
type: SiteQuality
SIO_000300: 1.6538e6

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.6538e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 7.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 8.170999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.656301e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508566275924256e-5
allele num: 66540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.526e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.142e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.657018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

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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bin: 9.75e1
variant carriers: 75

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

African
type: Population
allele count: 62
allele frequency: 6.348556215441327e-3
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
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: 6496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05199879771566e-4
allele num: 66540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.660248e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 799
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.512922226229114e-5
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 6.034e0

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 1.65848e6

GenotypeQuality
all individuals: 1664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.658216e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-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
all individuals: 45515
bin: 6.25e1
variant carriers: 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: 6490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5092439500977e-5
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.658404e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.75e1
variant carriers: 20

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

East Asian
type: Population
allele count: 14
allele frequency: 1.626016260162602e-3
allele num: 8610
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509786236132407e-5
allele num: 66522
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.658885e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

FS
type: SiteQuality
SIO_000300: 1.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

DP
type: SiteQuality
SIO_000300: 1.657814e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 5.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7509
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variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.657569e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: -3.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 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: 4.511142522029412e-5
allele num: 66502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.456e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 1.877e0

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.657436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45665
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.647e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.65742e6

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 2.647e0

DP
type: SiteQuality
SIO_000300: 1.65742e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 1585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 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: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 1.656936e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

FS
type: SiteQuality
SIO_000300: 3.648e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.626e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.783e0

GenotypeQuality
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
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GenotypeQuality
all individuals: 7419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 84
allele frequency: 5.092143549951503e-3
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

FS
type: SiteQuality
SIO_000300: 1.128e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 1.658457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.191e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 1.655185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 1.287e0

QD
type: SiteQuality
SIO_000300: 9.33e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053899427883168e-4
allele num: 66420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.155e1

DP
type: SiteQuality
SIO_000300: 1.655787e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 1551
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45481
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.035085589413621e-4
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

FS
type: SiteQuality
SIO_000300: 5.663e0

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

DP
type: SiteQuality
SIO_000300: 1.651284e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

GenotypeQuality
all individuals: 7374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45481
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 5.663e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

DP
type: SiteQuality
SIO_000300: 1.651284e6

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21447656060238e-4
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.65031e6

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

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.75e1
variant carriers: 4

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.649587e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.115e1

FS
type: SiteQuality
SIO_000300: 1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1