17-40280290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280290
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280290
    reference: chr 17
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.529G>A
  hgvsp: ENSP00000447053.1:p.Val177Met
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.223G>A
  hgvsp: ENSP00000467144.1:p.Val75Met
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.430G>A
  hgvsp: ENSP00000468275.1:p.Val144Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.430G>A
  hgvsp: ENSP00000377440.3:p.Val144Met
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.430G>A
  hgvsp: ENSP00000468367.1:p.Val144Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.430G>A
  hgvsp: ENSP00000345689.4:p.Val144Met
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val177Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-40280291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280291
    reference: chr 17
allele count: 23046
allele frequency: 1.907339358426855e-1
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.528C>T
  hgvsp: ENST00000547517.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.429C>T
  hgvsp: ENST00000592248.1:c.429C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.429C>T
  hgvsp: ENST00000592574.1:c.429C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.429C>T
  hgvsp: ENST00000346213.4:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.222C>T
  hgvsp: ENST00000551338.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.429C>T
  hgvsp: ENST00000393860.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.75e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.25e1
  variant carriers: 601
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 9.75e1
  variant carriers: 8528
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 6.25e1
  variant carriers: 823
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 7.25e1
  variant carriers: 1102
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.75e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 9.25e1
  variant carriers: 1402
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 1204
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 6.75e1
  variant carriers: 887
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 1316
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 8.25e1
  variant carriers: 1332
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala176Ala
num of homozygotes: 2616
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-40280295-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280295
    reference: chr 17
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.524G>C
  hgvsp: ENSP00000447053.1:p.Arg175Thr
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.218G>C
  hgvsp: ENSP00000467144.1:p.Arg73Thr
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.425G>C
  hgvsp: ENSP00000468367.1:p.Arg142Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.425G>C
  hgvsp: ENSP00000345689.4:p.Arg142Thr
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.425G>C
  hgvsp: ENSP00000468275.1:p.Arg142Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.425G>C
  hgvsp: ENSP00000377440.3:p.Arg142Thr
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg175Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-40280298-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280298
    reference: chr 17
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.521A>G
  hgvsp: ENSP00000447053.1:p.Lys174Arg
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.422A>G
  hgvsp: ENSP00000377440.3:p.Lys141Arg
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.422A>G
  hgvsp: ENSP00000468275.1:p.Lys141Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.215A>G
  hgvsp: ENSP00000467144.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.422A>G
  hgvsp: ENSP00000345689.4:p.Lys141Arg
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.422A>G
  hgvsp: ENSP00000468367.1:p.Lys141Arg
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys174Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-40280327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280327
    reference: chr 17
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.393C>T
  hgvsp: ENST00000592248.1:c.393C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.492C>T
  hgvsp: ENST00000547517.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.393C>T
  hgvsp: ENST00000592574.1:c.393C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.393C>T
  hgvsp: ENST00000393860.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.186C>T
  hgvsp: ENST00000551338.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.393C>T
  hgvsp: ENST00000346213.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu164Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-40280329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280329
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.391C>T
  hgvsp: ENSP00000377440.3:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.490C>T
  hgvsp: ENSP00000447053.1:p.Leu164Phe
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.391C>T
  hgvsp: ENSP00000345689.4:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.184C>T
  hgvsp: ENSP00000467144.1:p.Leu62Phe
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.391C>T
  hgvsp: ENSP00000468275.1:p.Leu131Phe
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.391C>T
  hgvsp: ENSP00000468367.1:p.Leu131Phe
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu164Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-40280331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280331
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280331
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.182C>T
  hgvsp: ENSP00000467144.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.389C>T
  hgvsp: ENSP00000468275.1:p.Ala130Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.488C>T
  hgvsp: ENSP00000447053.1:p.Ala163Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.389C>T
  hgvsp: ENSP00000345689.4:p.Ala130Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.389C>T
  hgvsp: ENSP00000468367.1:p.Ala130Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.389C>T
  hgvsp: ENSP00000377440.3:p.Ala130Val
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala163Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

17-40280336-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280336
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.384C>G
  hgvsp: ENST00000592248.1:c.384C>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.483C>G
  hgvsp: ENST00000547517.1:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.384C>G
  hgvsp: ENST00000393860.3:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.177C>G
  hgvsp: ENST00000551338.1:c.177C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.384C>G
  hgvsp: ENST00000346213.4:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.384C>G
  hgvsp: ENST00000592574.1:c.384C>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val161Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-40280341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280341
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.478A>G
  hgvsp: ENSP00000447053.1:p.Ile160Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.172A>G
  hgvsp: ENSP00000467144.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.379A>G
  hgvsp: ENSP00000345689.4:p.Ile127Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.379A>G
  hgvsp: ENSP00000468275.1:p.Ile127Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.379A>G
  hgvsp: ENSP00000468367.1:p.Ile127Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.379A>G
  hgvsp: ENSP00000377440.3:p.Ile127Val
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile160Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-40280343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280343
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.377A>G
  hgvsp: ENSP00000468275.1:p.Asn126Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.377A>G
  hgvsp: ENSP00000345689.4:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.377A>G
  hgvsp: ENSP00000468367.1:p.Asn126Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.170A>G
  hgvsp: ENSP00000467144.1:p.Asn57Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.476A>G
  hgvsp: ENSP00000447053.1:p.Asn159Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.377A>G
  hgvsp: ENSP00000377440.3:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6691
  bin: 6.25e1
  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: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn159Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

17-40280358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280358
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280358
    reference: chr 17
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.362G>A
  hgvsp: ENSP00000449612.1:p.Arg121Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.362G>A
  hgvsp: ENSP00000468367.1:p.Arg121Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.362G>A
  hgvsp: ENSP00000468275.1:p.Arg121Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.362G>A
  hgvsp: ENSP00000377440.3:p.Arg121Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.461G>A
  hgvsp: ENSP00000447053.1:p.Arg154Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.362G>A
  hgvsp: ENSP00000345689.4:p.Arg121Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.155G>A
  hgvsp: ENSP00000467144.1:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg121Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-40280360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280360
    reference: chr 17
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.360G>A
  hgvsp: ENST00000592248.1:c.360G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.459G>A
  hgvsp: ENST00000547517.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.153G>A
  hgvsp: ENST00000551338.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.360G>A
  hgvsp: ENST00000346213.4:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.360G>A
  hgvsp: ENST00000552162.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.360G>A
  hgvsp: ENST00000393860.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.360G>A
  hgvsp: ENST00000592574.1:c.360G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln120Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40280371-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280371
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280371
    reference: chr 17
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.349A>C
  hgvsp: ENSP00000468367.1:p.Lys117Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.349A>C
  hgvsp: ENSP00000449612.1:p.Lys117Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.142A>C
  hgvsp: ENSP00000467144.1:p.Lys48Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.349A>C
  hgvsp: ENSP00000468275.1:p.Lys117Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.349A>C
  hgvsp: ENSP00000377440.3:p.Lys117Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.448A>C
  hgvsp: ENSP00000447053.1:p.Lys150Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.349A>C
  hgvsp: ENSP00000345689.4:p.Lys117Gln
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys117Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-40280372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280372
    reference: chr 17
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.141G>A
  hgvsp: ENST00000551338.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.348G>A
  hgvsp: ENST00000393860.3:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.348G>A
  hgvsp: ENST00000592574.1:c.348G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.348G>A
  hgvsp: ENST00000552162.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.348G>A
  hgvsp: ENST00000346213.4:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.447G>A
  hgvsp: ENST00000547517.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.348G>A
  hgvsp: ENST00000592248.1:c.348G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val149Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-40280378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280378
    reference: chr 17
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.441C>G
  hgvsp: ENSP00000447053.1:p.Asn147Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.342C>G
  hgvsp: ENSP00000377440.3:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.342C>G
  hgvsp: ENSP00000449612.1:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.342C>G
  hgvsp: ENSP00000468275.1:p.Asn114Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.342C>G
  hgvsp: ENSP00000345689.4:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.342C>G
  hgvsp: ENSP00000468367.1:p.Asn114Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.135C>G
  hgvsp: ENSP00000467144.1:p.Asn45Lys
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44276
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn147Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40280388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280388
    reference: chr 17
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.332G>A
  hgvsp: ENSP00000345689.4:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.431G>A
  hgvsp: ENSP00000447053.1:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.332G>A
  hgvsp: ENSP00000468275.1:p.Arg111Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.332G>A
  hgvsp: ENSP00000377440.3:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.332G>A
  hgvsp: ENSP00000468367.1:p.Arg111Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.332G>A
  hgvsp: ENSP00000449612.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.125G>A
  hgvsp: ENSP00000467144.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg144Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

17-40280405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280405
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280405
    reference: chr 17
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.319-4T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.319-4T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.418-4T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.319-4T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.112-4T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.319-4T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.319-4T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
hgvs: c.418-4T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-40280426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280426
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280426
    reference: chr 17
allele count: 1
allele frequency: 8.428860418071477e-6
allele num: 118640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.112-25C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.319-25C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.418-25C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.319-25C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.319-25C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.319-25C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.319-25C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

17-40280440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280440
    reference: chr 17
allele count: 5
allele frequency: 4.240018995285099e-5
allele num: 117924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.319-39C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.112-39C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.319-39C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.319-39C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.319-39C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.418-39C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.319-39C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44269
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-40280441-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280441
    reference: chr 17
allele count: 2
allele frequency: 1.69741822687692e-5
allele num: 117826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.319-40C>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.319-40C>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.112-40C>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.418-40C>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.319-40C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.319-40C>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.319-40C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-40280446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280446
    reference: chr 17
allele count: 1
allele frequency: 8.522243054371911e-6
allele num: 117340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.418-45G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.319-45G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.319-45G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.319-45G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.319-45G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.112-45G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.319-45G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-40280622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280622
    reference: chr 17
allele count: 3
allele frequency: 2.71370420624152e-5
allele num: 110550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+45A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+45A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+45A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+45A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.555A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+45A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+45A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+45A>G
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-40280623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280623
    reference: chr 17
allele count: 1
allele frequency: 9.045680687471733e-6
allele num: 110550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+44A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.554A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+44A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+44A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+44A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+44A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+44A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+44A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-40280624-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280624
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280624
    reference: chr 17
allele count: 1
allele frequency: 9.045189768081334e-6
allele num: 110556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+43C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.553C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+43C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+43C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+43C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+43C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+43C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+43C>A
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31392
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

17-40280635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280635
    reference: chr 17
allele count: 2
allele frequency: 1.808874337499774e-5
allele num: 110566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+32C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.542C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+32C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+32C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+32C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+32C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+32C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

17-40280637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280637
    reference: chr 17
allele count: 1
allele frequency: 9.043226623259178e-6
allele num: 110580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+30C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+30C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+30C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+30C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+30C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+30C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.540C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+30C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-40280637-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280637
    reference: chr 17
allele count: 1
allele frequency: 9.043226623259178e-6
allele num: 110580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+30C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+30C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+30C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+30C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.540C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+30C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+30C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+30C>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-40280638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280638
    reference: chr 17
allele count: 2
allele frequency: 1.808678037222594e-5
allele num: 110578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+29G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+29G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.539G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+29G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+29G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+29G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+29G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+29G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-40280646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280646
    reference: chr 17
allele count: 6
allele frequency: 5.425347222222222e-5
allele num: 110592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+21C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+21C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.531C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+21C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40280650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280650
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280650
    reference: chr 17
allele count: 1
allele frequency: 9.042735970195143e-6
allele num: 110586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.527G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+17G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+17G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+17G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+17G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+17G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+17G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+17G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-40280652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280652
    reference: chr 17
allele count: 1
allele frequency: 9.04110084443882e-6
allele num: 110606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+15T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+15T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+15T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.525T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+15T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+15T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+15T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+15T>C
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-40280656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280656
    reference: chr 17
allele count: 1
allele frequency: 9.041591320072333e-6
allele num: 110600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.111+11C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.318+11C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.318+11C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.521C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.417+11C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.318+11C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.318+11C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.318+11C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-40280671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280671
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280671
    reference: chr 17
allele count: 1
allele frequency: 9.034892755822988e-6
allele num: 110682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.314A>G
  hgvsp: ENSP00000468367.1:p.Asn105Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.314A>G
  hgvsp: ENSP00000468275.1:p.Asn105Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.506A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.314A>G
  hgvsp: ENSP00000345689.4:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.314A>G
  hgvsp: ENSP00000449612.1:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.107A>G
  hgvsp: ENSP00000467144.1:p.Asn36Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.314A>G
  hgvsp: ENSP00000377440.3:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.413A>G
  hgvsp: ENSP00000447053.1:p.Asn138Ser
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn105Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-40280683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280683
    reference: chr 17
allele count: 2
allele frequency: 1.804923832214281e-5
allele num: 110808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.302A>G
  hgvsp: ENSP00000377440.3:p.Tyr101Cys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.302A>G
  hgvsp: ENSP00000345689.4:p.Tyr101Cys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.302A>G
  hgvsp: ENSP00000468367.1:p.Tyr101Cys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.401A>G
  hgvsp: ENSP00000447053.1:p.Tyr134Cys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.95A>G
  hgvsp: ENSP00000467144.1:p.Tyr32Cys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.302A>G
  hgvsp: ENSP00000468275.1:p.Tyr101Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.494A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.302A>G
  hgvsp: ENSP00000449612.1:p.Tyr101Cys
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr101Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-40280693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280693
    reference: chr 17
allele count: 8
allele frequency: 7.206947497387481e-5
allele num: 111004
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.391A>G
  hgvsp: ENSP00000447053.1:p.Ile131Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.85A>G
  hgvsp: ENSP00000467144.1:p.Ile29Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.484A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.292A>G
  hgvsp: ENSP00000377440.3:p.Ile98Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.292A>G
  hgvsp: ENSP00000345689.4:p.Ile98Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.292A>G
  hgvsp: ENSP00000468367.1:p.Ile98Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.292A>G
  hgvsp: ENSP00000449612.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.292A>G
  hgvsp: ENSP00000468275.1:p.Ile98Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile98Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-40280724-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280724
    reference: chr 17
allele count: 1
allele frequency: 8.823321804192843e-6
allele num: 113336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.261C>A
  hgvsp: ENST00000393860.3:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.360C>A
  hgvsp: ENST00000547517.1:c.360C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.261C>A
  hgvsp: ENST00000592574.1:c.261C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.261C>A
  hgvsp: ENST00000550504.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.261C>A
  hgvsp: ENST00000552162.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.261C>A
  hgvsp: ENST00000592248.1:c.261C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.453C>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.261C>A
  hgvsp: ENST00000346213.4:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.54C>A
  hgvsp: ENST00000551338.1:c.54C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala120Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-40280727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280727
    reference: chr 17
allele count: 4
allele frequency: 3.519329919583311e-5
allele num: 113658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.258G>A
  hgvsp: ENST00000552162.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.258G>A
  hgvsp: ENST00000592248.1:c.258G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.258G>A
  hgvsp: ENST00000550504.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.258G>A
  hgvsp: ENST00000346213.4:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.258G>A
  hgvsp: ENST00000592574.1:c.258G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.258G>A
  hgvsp: ENST00000393860.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.357G>A
  hgvsp: ENST00000547517.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000467144
  ensembl transcript: ENST00000551338
  gene symbol: RAB5C
  hgvsc: ENST00000551338.1:c.51G>A
  hgvsp: ENST00000551338.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.450G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu119Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

17-40280778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280778
    reference: chr 17
allele count: 2
allele frequency: 1.742069229831193e-5
allele num: 114806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.207A>G
  hgvsp: ENST00000393860.3:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.207A>G
  hgvsp: ENST00000592574.1:c.207A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.207A>G
  hgvsp: ENST00000592248.1:c.207A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.207A>G
  hgvsp: ENST00000552162.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.207A>G
  hgvsp: ENST00000550406.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.207A>G
  hgvsp: ENST00000550504.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.207A>G
  hgvsp: ENST00000346213.4:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.399A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.306A>G
  hgvsp: ENST00000547517.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr102Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-40280786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280786
    reference: chr 17
allele count: 1
allele frequency: 8.747681864305959e-6
allele num: 114316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.199G>A
  hgvsp: ENSP00000345689.4:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.391G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.199G>A
  hgvsp: ENSP00000448314.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.199G>A
  hgvsp: ENSP00000449612.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.199G>A
  hgvsp: ENSP00000377440.3:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.199G>A
  hgvsp: ENSP00000449777.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.199G>A
  hgvsp: ENSP00000468275.1:p.Asp67Asn
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.298G>A
  hgvsp: ENSP00000447053.1:p.Asp100Asn
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.199G>A
  hgvsp: ENSP00000468367.1:p.Asp67Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp100Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40280788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280788
    reference: chr 17
allele count: 2
allele frequency: 1.749842514173725e-5
allele num: 114296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.197A>G
  hgvsp: ENSP00000468275.1:p.Asp66Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.296A>G
  hgvsp: ENSP00000447053.1:p.Asp99Gly
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.197A>G
  hgvsp: ENSP00000449777.1:p.Asp66Gly
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.197A>G
  hgvsp: ENSP00000345689.4:p.Asp66Gly
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.197A>G
  hgvsp: ENSP00000448314.1:p.Asp66Gly
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.197A>G
  hgvsp: ENSP00000377440.3:p.Asp66Gly
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.197A>G
  hgvsp: ENSP00000468367.1:p.Asp66Gly
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.389A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.197A>G
  hgvsp: ENSP00000449612.1:p.Asp66Gly
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9600
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp99Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

17-40280792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280792
    reference: chr 17
allele count: 1
allele frequency: 8.766546857192952e-6
allele num: 114070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.193C>T
  hgvsp: ENST00000550504.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.385C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.193C>T
  hgvsp: ENST00000552162.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.193C>T
  hgvsp: ENST00000393860.3:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.292C>T
  hgvsp: ENST00000547517.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.193C>T
  hgvsp: ENST00000592574.1:c.193C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.193C>T
  hgvsp: ENST00000346213.4:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.193C>T
  hgvsp: ENST00000550406.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.193C>T
  hgvsp: ENST00000592248.1:c.193C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu98Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-40280805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280805
    reference: chr 17
allele count: 1
allele frequency: 8.837825894829872e-6
allele num: 113150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.180A>G
  hgvsp: ENST00000393860.3:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.180A>G
  hgvsp: ENST00000550504.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.180A>G
  hgvsp: ENST00000346213.4:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.180A>G
  hgvsp: ENST00000550406.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.372A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.180A>G
  hgvsp: ENST00000592248.1:c.180A>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.279A>G
  hgvsp: ENST00000547517.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.180A>G
  hgvsp: ENST00000552162.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.180A>G
  hgvsp: ENST00000592574.1:c.180A>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr93Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-40280817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280817
    reference: chr 17
allele count: 3
allele frequency: 2.678093197643278e-5
allele num: 112020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.168G>A
  hgvsp: ENST00000550406.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.168G>A
  hgvsp: ENST00000592248.1:c.168G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.267G>A
  hgvsp: ENST00000547517.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.168G>A
  hgvsp: ENST00000550504.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.168G>A
  hgvsp: ENST00000393860.3:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.168G>A
  hgvsp: ENST00000346213.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.360G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.168G>A
  hgvsp: ENST00000552162.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.168G>A
  hgvsp: ENST00000592574.1:c.168G>A(p.%3D)
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: c.168G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-40280821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280821
    reference: chr 17
allele count: 1
allele frequency: 8.95094880057286e-6
allele num: 111720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-3C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-3C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-3C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-3C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
hgvs: c.167-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-40280825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280825
    reference: chr 17
allele count: 5
allele frequency: 4.489700626762208e-5
allele num: 111366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-7C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-7C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
hgvs: c.167-7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40280834-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280834
    reference: chr 17
allele count: 1
allele frequency: 9.02820410963851e-6
allele num: 110764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-16T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-16T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-16T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-16T>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-40280837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280837
    reference: chr 17
allele count: 1
allele frequency: 9.055346276441612e-6
allele num: 110432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-19C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-19C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-19C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-19C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30543
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-40280841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280841
    reference: chr 17
allele count: 13
allele frequency: 1.179823208030058e-4
allele num: 110186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-23T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-23T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-23T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-23T>C
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13647
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-40280842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280842
    reference: chr 17
allele count: 1
allele frequency: 9.080507781995169e-6
allele num: 110126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-24A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-24A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-24A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-40280847-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280847
    reference: chr 17
allele count: 9
allele frequency: 8.196870616951128e-5
allele num: 109798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-29T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-29T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-29T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21596
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40280850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280850
    reference: chr 17
allele count: 1
allele frequency: 9.12258935576274e-6
allele num: 109618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-32T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-32T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-32T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-32T>C
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-40280852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280852
    reference: chr 17
allele count: 5
allele frequency: 4.567377959660918e-5
allele num: 109472
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-34G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-34G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-34G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-34G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-40280853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280853
    reference: chr 17
allele count: 14
allele frequency: 1.279450201970353e-4
allele num: 109422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-35C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-35C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-35C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-35C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-40280856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280856
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280856
    reference: chr 17
allele count: 6
allele frequency: 5.48747027620267e-5
allele num: 109340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-38A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-38A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-38A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-38A>G
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-40280860-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280860
    reference: chr 17
allele count: 24
allele frequency: 2.20026036414309e-4
allele num: 109078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-42T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-42T>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-42T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-40280865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280865
    reference: chr 17
allele count: 1
allele frequency: 9.224241306152569e-6
allele num: 108410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-47T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-47T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-47T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-47T>C
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-40280865-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40280865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40280865
    reference: chr 17
allele count: 1
allele frequency: 9.224241306152569e-6
allele num: 108410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.359-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.167-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.167-47T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.167-47T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.167-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.266-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.167-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.167-47T>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.167-47T>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-40282305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282305
    reference: chr 17
allele count: 1
allele frequency: 8.969736110363633e-6
allele num: 111486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.429A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+50A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+50A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+50A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+50A>G
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-40282322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282322
    reference: chr 17
allele count: 1
allele frequency: 8.939746111210441e-6
allele num: 111860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+33T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.412T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+33T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+33T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+33T>C
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

17-40282327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282327
    reference: chr 17
allele count: 1
allele frequency: 8.912655971479501e-6
allele num: 112200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+28G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.407G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+28G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+28G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+28G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-40282330-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282330
    reference: chr 17
allele count: 1
allele frequency: 8.900439681720277e-6
allele num: 112354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+25G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+25G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.404G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+25G>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+25G>T
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-40282334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282334
    reference: chr 17
allele count: 211
allele frequency: 1.869208554065307e-3
allele num: 112882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+21C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+21C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.400C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+21C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+21C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27339
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 39100
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-40282342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282342
    reference: chr 17
allele count: 1
allele frequency: 8.792600147715683e-6
allele num: 113732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+13G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+13G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+13G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.392G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+13G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-40282344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282344
    reference: chr 17
allele count: 1
allele frequency: 8.774546794658055e-6
allele num: 113966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.390A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+11A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+11A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+11A>G
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+11A>G
  variant of: http://identifiers.org/hgnc/9785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

17-40282350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282350
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282350
    reference: chr 17
allele count: 4
allele frequency: 3.484806244772791e-5
allele num: 114784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.166+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.166+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.384G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.166+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.358+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.166+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.166+5G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.166+5G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.166+5G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.265+5G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
hgvs: c.166+5G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

17-40282377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282377
    reference: chr 17
allele count: 82
allele frequency: 6.911199514530376e-4
allele num: 118648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.336G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.144G>A
  hgvsp: ENST00000346213.4:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.144G>A
  hgvsp: ENST00000393860.3:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.144G>A
  hgvsp: ENST00000550504.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.243G>A
  hgvsp: ENST00000547517.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.144G>A
  hgvsp: ENST00000552162.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.357G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.144G>A
  hgvsp: ENST00000592248.1:c.144G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.144G>A
  hgvsp: ENST00000592574.1:c.144G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.144G>A
  hgvsp: ENST00000550406.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27931
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu81Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-40282379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282379
    reference: chr 17
allele count: 2
allele frequency: 1.680898272036576e-5
allele num: 118984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.142G>A
  hgvsp: ENSP00000377440.3:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.142G>A
  hgvsp: ENSP00000468275.1:p.Glu48Lys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.355G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.142G>A
  hgvsp: ENSP00000449777.1:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.142G>A
  hgvsp: ENSP00000448314.1:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.142G>A
  hgvsp: ENSP00000468367.1:p.Glu48Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.142G>A
  hgvsp: ENSP00000345689.4:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.334G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.142G>A
  hgvsp: ENSP00000449612.1:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.241G>A
  hgvsp: ENSP00000447053.1:p.Glu81Lys
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu81Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-40282380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282380
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282380
    reference: chr 17
allele count: 2
allele frequency: 1.676698915175802e-5
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.141C>T
  hgvsp: ENST00000550504.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.240C>T
  hgvsp: ENST00000547517.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.141C>T
  hgvsp: ENST00000592574.1:c.141C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.141C>T
  hgvsp: ENST00000592248.1:c.141C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.141C>T
  hgvsp: ENST00000550406.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.141C>T
  hgvsp: ENST00000552162.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.333C>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.141C>T
  hgvsp: ENST00000393860.3:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.141C>T
  hgvsp: ENST00000346213.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.354C>T
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His80His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-40282383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282383
    reference: chr 17
allele count: 2
allele frequency: 1.671095068598453e-5
allele num: 119682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.138T>C
  hgvsp: ENST00000550406.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.351T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.138T>C
  hgvsp: ENST00000592574.1:c.138T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.138T>C
  hgvsp: ENST00000552162.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.237T>C
  hgvsp: ENST00000547517.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.138T>C
  hgvsp: ENST00000346213.4:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.330T>C
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.138T>C
  hgvsp: ENST00000550504.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.138T>C
  hgvsp: ENST00000592248.1:c.138T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.138T>C
  hgvsp: ENST00000393860.3:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe79Phe
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-40282389-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282389
    reference: chr 17
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.345A>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.132A>T
  hgvsp: ENST00000393860.3:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.324A>T
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.132A>T
  hgvsp: ENST00000552162.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000448314
  ensembl transcript: ENST00000550406
  gene symbol: RAB5C
  hgvsc: ENST00000550406.1:c.132A>T
  hgvsp: ENST00000550406.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000447053
  ensembl transcript: ENST00000547517
  gene symbol: RAB5C
  hgvsc: ENST00000547517.1:c.231A>T
  hgvsp: ENST00000547517.1:c.231A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.132A>T
  hgvsp: ENST00000550504.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468275
  ensembl transcript: ENST00000592248
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592248.1:c.132A>T
  hgvsp: ENST00000592248.1:c.132A>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.132A>T
  hgvsp: ENST00000592574.1:c.132A>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.132A>T
  hgvsp: ENST00000346213.4:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43328
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly77Gly
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: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

17-40282392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40282392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40282392
    reference: chr 17
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267261
  ensembl protein: ENSP00000468367
  ensembl transcript: ENST00000592574
  gene symbol: CTD-2132N18.3
  hgvsc: ENST00000592574.1:c.129G>A
  hgvsp: ENST00000592574.1:c.129G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000377440
  ensembl transcript: ENST00000393860
  gene symbol: RAB5C
  hgvsc: ENST00000393860.3:c.129G>A
  hgvsp: ENST00000393860.3:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000546881
  gene symbol: RAB5C
  hgvsc: ENST00000546881.1:n.321G>A
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449777
  ensembl transcript: ENST00000550504
  gene symbol: RAB5C
  hgvsc: ENST00000550504.1:c.129G>A
  hgvsp: ENST00000550504.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000345689
  ensembl transcript: ENST00000346213
  gene symbol: RAB5C
  hgvsc: ENST00000346213.4:c.129G>A
  hgvsp: ENST00000346213.4:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108774
  ensembl protein: ENSP00000449612
  ensembl transcript: ENST00000552162
  gene symbol: RAB5C
  hgvsc: ENST00000552162.1:c.129G>A
  hgvsp: ENST00000552162.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108774
  ensembl transcript: ENST00000550013
  gene symbol: RAB5C
  hgvsc: ENST00000550013.1:n.342G>A
  variant of: http://identifiers.org/hgnc/9785
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Lys76Lys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45047
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.309344e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.535e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.074e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

QD
type: SiteQuality
SIO_000300: 1.849e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49150
bin: 9.75e1
variant carriers: 20286

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

GenotypeQuality
all individuals: 4375
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1449
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 825
bin: 8.75e1
variant carriers: 19

South Asian
type: Population
allele count: 2917
allele frequency: 1.804627567433804e-1
allele num: 16164
num of homozygotes: 295

European (Non-Finnish)
type: Population
allele count: 11752
allele frequency: 1.765784175256183e-1
allele num: 66554
num of homozygotes: 1077

Latino
type: Population
allele count: 1297
allele frequency: 1.1206151719371e-1
allele num: 11574
num of homozygotes: 79

East Asian
type: Population
allele count: 1208
allele frequency: 1.400417342916763e-1
allele num: 8626
num of homozygotes: 86

African
type: Population
allele count: 4324
allele frequency: 4.155295022102633e-1
allele num: 10406
num of homozygotes: 909

European (Finnish)
type: Population
allele count: 1398
allele frequency: 2.115617433414043e-1
allele num: 6608
num of homozygotes: 159

Other
type: Population
allele count: 150
allele frequency: 1.674107142857143e-1
allele num: 896
num of homozygotes: 11

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.639e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 3.96853e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
all individuals: 1836
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 3.269727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 1.742e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 44284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.270497e6

QD
type: SiteQuality
SIO_000300: 1.424e1

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44278
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1170
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.169e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 3.274742e6

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44276
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.081e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.274673e6

QD
type: SiteQuality
SIO_000300: 1.578e1

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

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.617e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.274596e6

QD
type: SiteQuality
SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 2.659e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.073e0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

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

GenotypeQuality
all individuals: 1542
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.274667e6

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.288e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.806e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

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

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44275
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 3.274561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.279e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

FS
type: SiteQuality
SIO_000300: 3.988e0

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 3.274495e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1538
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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: 906
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 1.726e0

MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 3.273858e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

South Asian
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allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.336e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
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: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.272606e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.994e0

FS
type: SiteQuality
SIO_000300: 9.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.743e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.272522e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.596e1

FS
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 3.270663e6

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.78e-2

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

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
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African
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 1.2775e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

African
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East Asian
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Other
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Latino
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allele count: 0
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num of homozygotes: 0

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

Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65974
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South Asian
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MQ
type: SiteQuality
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DP
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.520588771972508e-5
allele num: 65764
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African
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allele frequency: 3.85951370127364e-4
allele num: 10364
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Other
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14050
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.04228780042592e-5
allele num: 65740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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bin: 2.25e1
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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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 13716
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524204365321302e-5
allele num: 65608
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.362e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.718e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63950
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.333333333333333e-4
allele num: 9000
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

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

QD
type: SiteQuality
SIO_000300: 1.533e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.708644e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.563721657544957e-5
allele num: 63950
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.11e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.708564e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 790
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9002
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.563574957783476e-5
allele num: 63956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.112e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.427e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.741250217656277e-4
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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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GenotypeQuality
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South Asian
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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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num of homozygotes: 0

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

East Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63968
num of homozygotes: 0

African
type: Population
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allele frequency: 9.805844283192783e-5
allele num: 10198
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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allele num: 8526
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South Asian
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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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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63974
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South Asian
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Other
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African
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allele num: 10202
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 1.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.713994e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.358e0

GenotypeQuality
all individuals: 295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31840
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563183892953167e-5
allele num: 63972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 1.946e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -4.953e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.714755e6

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31885
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.715525e6

VQSLOD
type: SiteQuality
SIO_000300: -3.478e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 5.094e0

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563183892953167e-5
allele num: 63972
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

FS
type: SiteQuality
SIO_000300: 1.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 1.716388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: -2.41e-2

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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: 790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562402349853134e-5
allele num: 64004
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.298e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 4.978e0

DP
type: SiteQuality
SIO_000300: 1.720972e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

GenotypeQuality
all individuals: 777
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122658006495129e-5
allele num: 64048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.72477e6

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 9.75e1
variant carriers: 8

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64098
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 8.658008658008658e-4
allele num: 9240
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.729235e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
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: 820
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546503355912282e-5
allele num: 64662
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 3.639e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.750052e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
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: 8622
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.177987829363977e-5
allele num: 64746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.295e0

FS
type: SiteQuality
SIO_000300: 1.882e0

DP
type: SiteQuality
SIO_000300: 1.752696e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 2002
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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: 2.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
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GenotypeQuality
all individuals: 32837
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.540879534038029e-5
allele num: 64898
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64826
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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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
allele num: 11504
num of homozygotes: 0

South Asian
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allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8586
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Latino
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allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
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allele frequency: 9.759906304899473e-5
allele num: 10246
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 64238
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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European (Finnish)
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allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566710534561634e-5
allele num: 63828
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.694167e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e0

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3403
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 1.681584e6

FS
type: SiteQuality
SIO_000300: 1.2879e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.395e1

VQSLOD
type: SiteQuality
SIO_000300: -1.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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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: 3402
bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8910
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
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variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.042997234096052e-4
allele num: 63632
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 1.661864e6

GenotypeQuality
all individuals: 986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29284
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variant carriers: 0

GenotypeQuality
all individuals: 2638
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 783
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1029
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variant carriers: 0

GenotypeQuality
all individuals: 8854
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572327044025157e-5
allele num: 63600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.369e1

DP
type: SiteQuality
SIO_000300: 1.654191e6

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1014
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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 27055
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variant carriers: 0

GenotypeQuality
all individuals: 1901
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variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.417412120448532e-4
allele num: 63496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.604208e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeQuality
all individuals: 741
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3178
bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 3365
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variant carriers: 0

GenotypeQuality
all individuals: 2888
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variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
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variant carriers: 1

GenotypeQuality
all individuals: 1801
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576839383140433e-5
allele num: 63418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

DP
type: SiteQuality
SIO_000300: 1.555125e6

GenotypeQuality
all individuals: 23621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 3219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
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variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.89315821046317e-5
allele num: 63346
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.54388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 7.469e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.056e1

GenotypeQuality
all individuals: 3287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

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
all individuals: 6961
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579429510060966e-5
allele num: 63314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 1.438053097345133e-3
allele num: 9040
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.530636e6

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 4.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 2032
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
all individuals: 307
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variant carriers: 0

GenotypeQuality
all individuals: 6778
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.311614730878187e-4
allele num: 11296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 1.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.500986e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 2225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2668
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variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 977
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 2251
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GenotypeQuality
all individuals: 1724
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 24

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.406738868832732e-3
allele num: 9972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.461503e6

FS
type: SiteQuality
SIO_000300: 2.064e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62858
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.123595505617978e-4
allele num: 8900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.435176e6

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590887396990041e-5
allele num: 62858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.435176e6

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557001837262168e-5
allele num: 64226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
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: 796
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.608211e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.967e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
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: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55458135124211e-5
allele num: 64326
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.61614e6

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552746809105307e-5
allele num: 64402
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
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.619132e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64442
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.877e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.621287e6

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

Other
type: Population
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allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549378699141644e-5
allele num: 64542
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
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
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South Asian
type: Population
allele count: 209
allele frequency: 1.975798827755719e-2
allele num: 10578
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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QD
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SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 2.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.543257507947776e-5
allele num: 64798
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
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SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.631506e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.154035508784885e-5
allele num: 64998
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
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MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.637402e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1379
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GenotypeQuality
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Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
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: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 1.045708050436469e-3
allele num: 65984
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.162695152013147e-4
allele num: 14604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

DP
type: SiteQuality
SIO_000300: 1.67698e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

QD
type: SiteQuality
SIO_000300: 1.131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14834
num of homozygotes: 0

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

European (Finnish)
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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: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 9.13e-1

DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

African
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allele frequency: 1.926782273603083e-4
allele num: 10380
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East Asian
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.682539e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

Latino
type: Population
allele count: 0
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African
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Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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