2-219266277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266277
    reference: chr 2
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.388C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68-10C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353-10C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-219266278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266278
    reference: chr 2
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.389C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78-9C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68-9C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-219266280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266280
    reference: chr 2
allele count: 10
allele frequency: 8.297791128001725e-5
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.391A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26-7A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49-7A>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.68-7A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-219266284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266284
    reference: chr 2
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.395C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25-3C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68-3C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.68-3C>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-219266284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266284
    reference: chr 2
allele count: 3
allele frequency: 2.486407638244265e-5
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290-3C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.395C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.68-3C>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-219266287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266287
    reference: chr 2
allele count: 3
allele frequency: 2.485295335929086e-5
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.88G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.312G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.78G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.398G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.55G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.25G>A
  hgvsp: ENSP00000404301.1:p.Gly9Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.73G>A
  hgvsp: ENSP00000403256.1:p.Gly25Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.277G>A
  hgvsp: ENSP00000411308.1:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.68G>A
  hgvsp: ENSP00000392248.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.68G>A
  hgvsp: ENSP00000273062.2:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.290G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.49G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.353G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-219266289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266289
    reference: chr 2
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.355G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.70G>A
  hgvsp: ENSP00000392248.1:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.27G>A
  hgvsp: ENSP00000404301.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.292G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.51G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.90G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.279G>A
  hgvsp: ENSP00000411308.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.70G>A
  hgvsp: ENSP00000273062.2:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.400G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.28G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.57G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.75G>A
  hgvsp: ENSP00000403256.1:p.Asp26Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.314G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.80G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp24Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-219266291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266291
    reference: chr 2
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.53C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.59C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.30C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.72C>T
  hgvsp: ENST00000443891.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.72C>T
  hgvsp: ENST00000273062.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.82C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.29C>T
  hgvsp: ENST00000452977.1:c.29C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.357C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.77C>T
  hgvsp: ENST00000428361.1:c.77C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.294C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.281C>T
  hgvsp: ENST00000431127.1:c.281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.316C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.92C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.402C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp24Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-219266293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266293
    reference: chr 2
allele count: 4
allele frequency: 3.311532411623479e-5
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.74A>G
  hgvsp: ENSP00000392248.1:p.Gln25Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.318A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.31A>G
  hgvsp: ENSP00000404301.1:p.Gln11Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.79A>G
  hgvsp: ENSP00000403256.1:p.Gln27Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.283A>G
  hgvsp: ENSP00000411308.1:p.Gln95Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.404A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.74A>G
  hgvsp: ENSP00000273062.2:p.Gln25Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.94A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.84A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.61A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.359A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.32A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.296A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.55A>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln25Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

2-219266297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266297
    reference: chr 2
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.408G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.287G>C
  hgvsp: ENSP00000411308.1:p.Lys96Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.78G>C
  hgvsp: ENSP00000273062.2:p.Lys26Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.322G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.300G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.83G>C
  hgvsp: ENSP00000403256.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.59G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.65G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.363G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.78G>C
  hgvsp: ENSP00000392248.1:p.Lys26Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.88G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.98G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.36G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.35G>C
  hgvsp: ENSP00000404301.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys26Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-219266299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266299
    reference: chr 2
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.37C>T
  hgvsp: ENSP00000404301.1:p.Ser13Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.38C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.100C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.85C>T
  hgvsp: ENSP00000403256.1:p.Ser29Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.67C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.80C>T
  hgvsp: ENSP00000392248.1:p.Ser27Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.324C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.289C>T
  hgvsp: ENSP00000411308.1:p.Ser97Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.61C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.302C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.80C>T
  hgvsp: ENSP00000273062.2:p.Ser27Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.365C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.90C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.410C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser27Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

2-219266320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266320
    reference: chr 2
allele count: 3
allele frequency: 2.482827112472068e-5
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.101G>A
  hgvsp: ENSP00000273062.2:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.59G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.82G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.345G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.121G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.106G>A
  hgvsp: ENSP00000403256.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.386G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.58G>A
  hgvsp: ENSP00000404301.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.310G>A
  hgvsp: ENSP00000411308.1:p.Arg104Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.431G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.88G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.323G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.101G>A
  hgvsp: ENSP00000392248.1:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.111G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg34Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-219266326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266326
    reference: chr 2
allele count: 7
allele frequency: 5.79614142585079e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.316G>A
  hgvsp: ENSP00000411308.1:p.Arg106Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.329G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.112G>A
  hgvsp: ENSP00000403256.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.117G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.88G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.351G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.392G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.437G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.107G>A
  hgvsp: ENSP00000392248.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.107G>A
  hgvsp: ENSP00000273062.2:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.64G>A
  hgvsp: ENSP00000404301.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.65G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.127G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.94G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg36Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

2-219266327-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266327
    reference: chr 2
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.89G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.66G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.108G>C
  hgvsp: ENST00000443891.1:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.128G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.317G>C
  hgvsp: ENST00000431127.1:c.317G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.438G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.330G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.108G>C
  hgvsp: ENST00000273062.2:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.65G>C
  hgvsp: ENST00000452977.1:c.65G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.393G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.95G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.118G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.113G>C
  hgvsp: ENST00000428361.1:c.113G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.352G>C
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg36Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-219266334-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266334
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.72C>G
  hgvsp: ENSP00000404301.1:p.Leu25Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.115C>G
  hgvsp: ENSP00000273062.2:p.Leu39Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.125C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.120C>G
  hgvsp: ENSP00000403256.1:p.Leu41Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.359C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.115C>G
  hgvsp: ENSP00000392248.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.135C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.96C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.324C>G
  hgvsp: ENSP00000411308.1:p.Leu109Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.73C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.400C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.102C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.445C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.337C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu39Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-219266334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266334
    reference: chr 2
allele count: 4
allele frequency: 3.314990386527879e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.72C>T
  hgvsp: ENSP00000404301.1:p.Leu25Phe
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.120C>T
  hgvsp: ENSP00000403256.1:p.Leu41Phe
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.359C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.115C>T
  hgvsp: ENSP00000273062.2:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.73C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.324C>T
  hgvsp: ENSP00000411308.1:p.Leu109Phe
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.135C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.102C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.445C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.400C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.115C>T
  hgvsp: ENSP00000392248.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.96C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.125C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.337C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu39Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

2-219266351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266351
    reference: chr 2
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.89C>T
  hgvsp: ENST00000452977.1:c.89C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.341C>T
  hgvsp: ENST00000431127.1:c.341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.113C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.132C>T
  hgvsp: ENST00000273062.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.132C>T
  hgvsp: ENST00000443891.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.417C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.462C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.137C>T
  hgvsp: ENST00000428361.1:c.137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.376C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.354C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.142C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.119C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.90C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.152C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys44Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-219266358-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266358
    reference: chr 2
allele count: 2
allele frequency: 1.668307168715904e-5
allele num: 119882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.348T>G
  hgvsp: ENSP00000411308.1:p.Cys117Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.97T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.96T>G
  hgvsp: ENSP00000404301.1:p.Cys33Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.149T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.424T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.139T>G
  hgvsp: ENSP00000392248.1:p.Cys47Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.159T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.361T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.144T>G
  hgvsp: ENSP00000403256.1:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.120T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.383T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.139T>G
  hgvsp: ENSP00000273062.2:p.Cys47Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.126T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.469T>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys47Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

2-219266361-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266361
    reference: chr 2
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.100C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.152C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.129C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.427C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.142C>G
  hgvsp: ENSP00000392248.1:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.386C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.142C>G
  hgvsp: ENSP00000273062.2:p.Arg48Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.472C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.351C>G
  hgvsp: ENSP00000411308.1:p.Arg118Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.147C>G
  hgvsp: ENSP00000403256.1:p.Arg50Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.123C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.162C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.364C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.99C>G
  hgvsp: ENSP00000404301.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg48Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-219266361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266361
    reference: chr 2
allele count: 5
allele frequency: 4.179553623672992e-5
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.364C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.427C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.142C>T
  hgvsp: ENSP00000273062.2:p.Arg48Trp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.142C>T
  hgvsp: ENSP00000392248.1:p.Arg48Trp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.386C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.472C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.351C>T
  hgvsp: ENSP00000411308.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.152C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.129C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.147C>T
  hgvsp: ENSP00000403256.1:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.99C>T
  hgvsp: ENSP00000404301.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.123C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.100C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.162C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg48Trp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-219266362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266362
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266362
    reference: chr 2
allele count: 2
allele frequency: 1.67464916100077e-5
allele num: 119428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.387G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.365G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.143G>A
  hgvsp: ENSP00000392248.1:p.Arg48Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.124G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.153G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.163G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.352G>A
  hgvsp: ENSP00000411308.1:p.Arg118Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.101G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.143G>A
  hgvsp: ENSP00000273062.2:p.Arg48Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.473G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.130G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.100G>A
  hgvsp: ENSP00000404301.1:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.148G>A
  hgvsp: ENSP00000403256.1:p.Arg50Gln
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.428G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg48Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219266363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266363
    reference: chr 2
allele count: 47
allele frequency: 3.934964250431171e-4
allele num: 119442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.474G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.102G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.154G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.144G>A
  hgvsp: ENST00000443891.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.101G>A
  hgvsp: ENST00000452977.1:c.101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.388G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.131G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.353G>A
  hgvsp: ENST00000431127.1:c.353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.144G>A
  hgvsp: ENST00000273062.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.429G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.149G>A
  hgvsp: ENST00000428361.1:c.149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.366G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.125G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.164G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg48Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-219266364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266364
    reference: chr 2
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.430G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.145G>A
  hgvsp: ENSP00000273062.2:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.145G>A
  hgvsp: ENSP00000392248.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.475G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.367G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.165G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.150G>A
  hgvsp: ENSP00000403256.1:p.Asp51Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.102G>A
  hgvsp: ENSP00000404301.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.126G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.389G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.155G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.354G>A
  hgvsp: ENSP00000411308.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.132G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.103G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp49Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-219266365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266365
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266365
    reference: chr 2
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.431A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.127A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.368A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.156A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.166A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.104A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.146A>T
  hgvsp: ENSP00000392248.1:p.Asp49Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.476A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.151A>T
  hgvsp: ENSP00000403256.1:p.Asp51Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.146A>T
  hgvsp: ENSP00000273062.2:p.Asp49Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.390A>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.355A>T
  hgvsp: ENSP00000411308.1:p.Asp119Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.103A>T
  hgvsp: ENSP00000404301.1:p.Asp35Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.133A>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp49Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-219266370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266370
    reference: chr 2
allele count: 2
allele frequency: 1.679430337229612e-5
allele num: 119088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.436G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.156G>A
  hgvsp: ENSP00000403256.1:p.Gly53Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.481G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.151G>A
  hgvsp: ENSP00000273062.2:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.138G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.109G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.151G>A
  hgvsp: ENSP00000392248.1:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.360G>A
  hgvsp: ENSP00000411308.1:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.108G>A
  hgvsp: ENSP00000404301.1:p.Gly37Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.395G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.373G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.171G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.132G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.161G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly51Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-219266379-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266379
    reference: chr 2
allele count: 1
allele frequency: 8.454371755634839e-6
allele num: 118282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.165C>A
  hgvsp: ENSP00000403256.1:p.Leu56Met
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.170C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.160C>A
  hgvsp: ENSP00000273062.2:p.Leu54Met
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.382C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.404C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.369C>A
  hgvsp: ENSP00000411308.1:p.Leu124Met
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.147C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.445C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.118C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.141C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.117C>A
  hgvsp: ENSP00000404301.1:p.Leu40Met
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.160C>A
  hgvsp: ENSP00000392248.1:p.Leu54Met
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.180C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.490C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu54Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-219266382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266382
    reference: chr 2
allele count: 1
allele frequency: 8.4870911343846e-6
allele num: 117826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.183C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.385C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.121C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.168C>T
  hgvsp: ENSP00000403256.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.120C>T
  hgvsp: ENSP00000404301.1:p.Pro41Ser
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.407C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.150C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.163C>T
  hgvsp: ENSP00000392248.1:p.Pro55Ser
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.448C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.372C>T
  hgvsp: ENSP00000411308.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.163C>T
  hgvsp: ENSP00000273062.2:p.Pro55Ser
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.144C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.173C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.493C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro55Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

2-219266385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266385
    reference: chr 2
allele count: 1087
allele frequency: 9.273636255054857e-3
allele num: 117214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.171G>A
  hgvsp: ENSP00000403256.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.496G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.123G>A
  hgvsp: ENSP00000404301.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.166G>A
  hgvsp: ENSP00000392248.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.388G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.410G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.166G>A
  hgvsp: ENSP00000273062.2:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.451G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.147G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.124G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.176G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.186G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.153G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.375G>A
  hgvsp: ENSP00000411308.1:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 3.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Ala56Thr
num of homozygotes: 15
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-219266386-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266386
    reference: chr 2
allele count: 1
allele frequency: 8.540001366400219e-6
allele num: 117096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.125C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.389C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.376C>G
  hgvsp: ENSP00000411308.1:p.Ala126Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.411C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.167C>G
  hgvsp: ENSP00000392248.1:p.Ala56Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.154C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.452C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.177C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.172C>G
  hgvsp: ENSP00000403256.1:p.Ala58Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.167C>G
  hgvsp: ENSP00000273062.2:p.Ala56Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.148C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.124C>G
  hgvsp: ENSP00000404301.1:p.Ala42Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.187C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.497C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

2-219266386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266386
    reference: chr 2
allele count: 7
allele frequency: 5.978000956480153e-5
allele num: 117096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.124C>T
  hgvsp: ENSP00000404301.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.411C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.187C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.125C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.167C>T
  hgvsp: ENSP00000392248.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.452C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.154C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.177C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.167C>T
  hgvsp: ENSP00000273062.2:p.Ala56Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.376C>T
  hgvsp: ENSP00000411308.1:p.Ala126Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.172C>T
  hgvsp: ENSP00000403256.1:p.Ala58Val
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.148C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.389C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.497C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-219266388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266388
    reference: chr 2
allele count: 269
allele frequency: 2.30905251592302e-3
allele num: 116498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.179C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.189C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.174C>G
  hgvsp: ENSP00000403256.1:p.His59Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.454C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.391C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.413C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.499C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.169C>G
  hgvsp: ENSP00000273062.2:p.His57Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.150C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.127C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.126C>G
  hgvsp: ENSP00000404301.1:p.His43Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.169C>G
  hgvsp: ENSP00000392248.1:p.His57Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.156C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.378C>G
  hgvsp: ENSP00000411308.1:p.His127Asp
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
hgvs: p.His57Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-219266390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266390
    reference: chr 2
allele count: 1
allele frequency: 8.60229853416833e-6
allele num: 116248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.171C>T
  hgvsp: ENST00000443891.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.415C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.128C>T
  hgvsp: ENST00000452977.1:c.128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.176C>T
  hgvsp: ENST00000428361.1:c.176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.456C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.380C>T
  hgvsp: ENST00000431127.1:c.380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.393C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.181C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.171C>T
  hgvsp: ENST00000273062.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.191C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.158C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.152C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.501C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.129C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His57His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

2-219266392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266392
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266392
    reference: chr 2
allele count: 4
allele frequency: 3.441629955947137e-5
allele num: 116224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.178G>A
  hgvsp: ENSP00000403256.1:p.Ser60Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.131G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.130G>A
  hgvsp: ENSP00000404301.1:p.Ser44Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.193G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.417G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.395G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.458G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.183G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.382G>A
  hgvsp: ENSP00000411308.1:p.Ser128Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.173G>A
  hgvsp: ENSP00000273062.2:p.Ser58Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.503G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.154G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.173G>A
  hgvsp: ENSP00000392248.1:p.Ser58Asn
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.160G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23400
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser58Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219266393-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266393
    reference: chr 2
allele count: 1
allele frequency: 8.637070305752289e-6
allele num: 115780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.184C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.174C>A
  hgvsp: ENSP00000273062.2:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.155C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.131C>A
  hgvsp: ENSP00000404301.1:p.Ser44Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.459C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.174C>A
  hgvsp: ENSP00000392248.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.383C>A
  hgvsp: ENSP00000411308.1:p.Ser128Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.504C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.418C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.194C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.179C>A
  hgvsp: ENSP00000403256.1:p.Ser60Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.161C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.396C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.132C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser58Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-219266393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266393
    reference: chr 2
allele count: 173
allele frequency: 1.494213162895146e-3
allele num: 115780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.194C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.155C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.184C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.174C>T
  hgvsp: ENST00000273062.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.132C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.418C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.161C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.383C>T
  hgvsp: ENST00000431127.1:c.383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.131C>T
  hgvsp: ENST00000452977.1:c.131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.504C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.179C>T
  hgvsp: ENST00000428361.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.174C>T
  hgvsp: ENST00000443891.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.396C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.459C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23229
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser58Ser
num of homozygotes: 2
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-219266394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266394
    reference: chr 2
allele count: 2
allele frequency: 1.72669820768726e-5
allele num: 115828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.505G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.162G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.384G>A
  hgvsp: ENSP00000411308.1:p.Gly129Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.195G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.419G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.175G>A
  hgvsp: ENSP00000392248.1:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.185G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.133G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.180G>A
  hgvsp: ENSP00000403256.1:p.Gly61Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.397G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.460G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.175G>A
  hgvsp: ENSP00000273062.2:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.132G>A
  hgvsp: ENSP00000404301.1:p.Gly45Arg
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.156G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly59Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-219266398-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266398
    reference: chr 2
allele count: 1
allele frequency: 8.698677800974252e-6
allele num: 114960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.136C>G
  hgvsp: ENSP00000404301.1:p.Ala46Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.401C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.160C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.184C>G
  hgvsp: ENSP00000403256.1:p.Ala62Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.423C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.388C>G
  hgvsp: ENSP00000411308.1:p.Ala130Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.179C>G
  hgvsp: ENSP00000273062.2:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.137C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.509C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.464C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.189C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.166C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.179C>G
  hgvsp: ENSP00000392248.1:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.199C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala60Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-219266399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266399
    reference: chr 2
allele count: 1
allele frequency: 8.713230168688136e-6
allele num: 114768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.138G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.185G>A
  hgvsp: ENST00000428361.1:c.185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.167G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.180G>A
  hgvsp: ENST00000273062.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.190G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.389G>A
  hgvsp: ENST00000431127.1:c.389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.161G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.137G>A
  hgvsp: ENST00000452977.1:c.137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.465G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.200G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.180G>A
  hgvsp: ENST00000443891.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.424G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.510G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.402G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala60Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

2-219266399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266399
    reference: chr 2
allele count: 1
allele frequency: 8.713230168688136e-6
allele num: 114768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.465G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.389G>T
  hgvsp: ENST00000431127.1:c.389G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.402G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.424G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.161G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.190G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.180G>T
  hgvsp: ENST00000443891.1:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.137G>T
  hgvsp: ENST00000452977.1:c.137G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.180G>T
  hgvsp: ENST00000273062.2:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.510G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.167G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.185G>T
  hgvsp: ENST00000428361.1:c.185G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.138G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.200G>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala60Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-219266400-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266400
    reference: chr 2
allele count: 1
allele frequency: 8.712471031033823e-6
allele num: 114778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.138C>G
  hgvsp: ENSP00000404301.1:p.Pro47Ala
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.186C>G
  hgvsp: ENSP00000403256.1:p.Pro63Ala
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.191C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.168C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.181C>G
  hgvsp: ENSP00000392248.1:p.Pro61Ala
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.181C>G
  hgvsp: ENSP00000273062.2:p.Pro61Ala
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.466C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.162C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.390C>G
  hgvsp: ENSP00000411308.1:p.Pro131Ala
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.201C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.139C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.403C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.425C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.511C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro61Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-219266401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266401
    reference: chr 2
allele count: 1
allele frequency: 8.723111010310717e-6
allele num: 114638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.139C>T
  hgvsp: ENSP00000404301.1:p.Pro47Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.182C>T
  hgvsp: ENSP00000273062.2:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.140C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.202C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.163C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.512C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.187C>T
  hgvsp: ENSP00000403256.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.467C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.182C>T
  hgvsp: ENSP00000392248.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.426C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.169C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.391C>T
  hgvsp: ENSP00000411308.1:p.Pro131Leu
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.404C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.192C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro61Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

2-219266405-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266405
    reference: chr 2
allele count: 2
allele frequency: 1.757654585720814e-5
allele num: 113788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.191G>C
  hgvsp: ENST00000428361.1:c.191G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.186G>C
  hgvsp: ENST00000443891.1:c.186G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.173G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.395G>C
  hgvsp: ENST00000431127.1:c.395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.167G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.430G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.471G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.516G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.144G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.186G>C
  hgvsp: ENST00000273062.2:c.186G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.206G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.408G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.196G>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.143G>C
  hgvsp: ENST00000452977.1:c.143G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu62Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-219266418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266418
    reference: chr 2
allele count: 1
allele frequency: 9.015344115684896e-6
allele num: 110922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.443A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.529A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.156A>G
  hgvsp: ENSP00000404301.1:p.Asn53Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.199A>G
  hgvsp: ENSP00000273062.2:p.Asn67Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.408A>G
  hgvsp: ENSP00000411308.1:p.Asn137Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.199A>G
  hgvsp: ENSP00000392248.1:p.Asn67Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.157A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.180A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.186A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.421A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.204A>G
  hgvsp: ENSP00000403256.1:p.Asn69Asp
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.209A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.484A>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.219A>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn67Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-219266423-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266423
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266423
    reference: chr 2
allele count: 27974
allele frequency: 2.575495322972675e-1
allele num: 108616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.448C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.204C>A
  hgvsp: ENST00000443891.1:c.204C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.534C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.185C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.413C>A
  hgvsp: ENST00000431127.1:c.413C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.426C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.204C>A
  hgvsp: ENST00000273062.2:c.204C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.209C>A
  hgvsp: ENST00000428361.1:c.209C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.161C>A
  hgvsp: ENST00000452977.1:c.161C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.489C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.191C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.214C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.162C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.224C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 742
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 4155
genotype depth: GenotypeDepth
  all individuals: 17350
  bin: 2.75e1
  variant carriers: 4321
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 1296
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 1.75e1
  variant carriers: 2384
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.75e1
  variant carriers: 3217
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 2.25e1
  variant carriers: 3554
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 1.25e1
  variant carriers: 1698
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.5e0
  variant carriers: 832
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
hgvs: p.Gly68Gly
num of homozygotes: 3607
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-219266426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266426
    reference: chr 2
allele count: 7
allele frequency: 6.773756531836656e-5
allele num: 103340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.165C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.492C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.207C>T
  hgvsp: ENST00000273062.2:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.207C>T
  hgvsp: ENST00000443891.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.188C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.227C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.537C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.164C>T
  hgvsp: ENST00000452977.1:c.164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.212C>T
  hgvsp: ENST00000428361.1:c.212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.194C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.429C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.451C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.217C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.416C>T
  hgvsp: ENST00000431127.1:c.416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala69Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-219266429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266429
    reference: chr 2
allele count: 1
allele frequency: 9.950050745258801e-6
allele num: 100502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.191C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000496785
  gene symbol: CTDSP1
  hgvsc: ENST00000496785.1:n.454C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.540C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.210C>T
  hgvsp: ENST00000273062.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.230C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.419C>T
  hgvsp: ENST00000431127.1:c.419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.167C>T
  hgvsp: ENST00000452977.1:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.220C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.432C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.210C>T
  hgvsp: ENST00000443891.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.168C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.215C>T
  hgvsp: ENST00000428361.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.197C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.495C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile70Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-219266440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266440
    reference: chr 2
allele count: 2
allele frequency: 2.125398512221041e-5
allele num: 94100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+5G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+5G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.216+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-219266441-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266441
    reference: chr 2
allele count: 5
allele frequency: 5.319375292565641e-5
allele num: 93996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+6T>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+6T>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.216+6T>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-219266446-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266446
    reference: chr 2
allele count: 10
allele frequency: 1.126405190475118e-4
allele num: 88778
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+11G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+11G>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19706
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-219266447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266447
    reference: chr 2
allele count: 3
allele frequency: 3.383026229730035e-5
allele num: 88678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+12C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+12C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
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: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-219266452-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266452
    reference: chr 2
allele count: 1
allele frequency: 1.15164916159941e-5
allele num: 86832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+17T>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+17T>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219266456-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266456
    reference: chr 2
allele count: 2
allele frequency: 2.384358607534573e-5
allele num: 83880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+21G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+21G>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS

2-219266457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266457
    reference: chr 2
allele count: 2
allele frequency: 2.394808056134301e-5
allele num: 83514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+22C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+22C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-219266460-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266460
    reference: chr 2
allele count: 1
allele frequency: 1.214034235765449e-5
allele num: 82370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+25C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+25C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23231
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-219266460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266460
    reference: chr 2
allele count: 20
allele frequency: 2.428068471530897e-4
allele num: 82370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+25C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+25C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23231
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12766
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-219266461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266461
    reference: chr 2
allele count: 3
allele frequency: 3.741861451343328e-5
allele num: 80174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+26G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+26G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23560
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-219266462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266462
    reference: chr 2
allele count: 1
allele frequency: 1.24121837996177e-5
allele num: 80566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+27G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+27G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-219266465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266465
    reference: chr 2
allele count: 1
allele frequency: 1.259572752922209e-5
allele num: 79392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+30G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+30G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-219266468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266468
    reference: chr 2
allele count: 2
allele frequency: 2.584647195657793e-5
allele num: 77380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+33C>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+33C>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-219266468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266468
    reference: chr 2
allele count: 2
allele frequency: 2.584647195657793e-5
allele num: 77380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+33C>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+33C>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-219266469-CTGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266465
    reference: chr 2
allele count: 1
allele frequency: 1.297656432482936e-5
allele num: 77062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+35_501+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+35_173+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+35_425+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+35_221+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+35_546+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+35_203+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+35_216+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+35_197+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+35_226+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+35_174+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+35_216+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+35_236+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+35_438+38delTGGA
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CTGGA
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-219266476-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266477
    reference: chr 2
allele count: 1
allele frequency: 1.371065043325655e-5
allele num: 72936
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+42dupA
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+42dupA
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-219266481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266481
    reference: chr 2
allele count: 1
allele frequency: 1.470718004529811e-5
allele num: 67994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+46T>C
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+46T>C
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-219266483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266483
    reference: chr 2
allele count: 1
allele frequency: 1.485133810556331e-5
allele num: 67334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+48C>G
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+48C>G
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-219266487-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266487
    reference: chr 2
allele count: 1
allele frequency: 1.562158277876714e-5
allele num: 64014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.203+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.236+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.546+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000491064
  gene symbol: CTDSP1
  hgvsc: ENST00000491064.1:n.226+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.197+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000411308
  ensembl transcript: ENST00000431127
  gene symbol: CTDSP1
  hgvsc: ENST00000431127.1:c.425+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.216+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000392248
  ensembl transcript: ENST00000443891
  gene symbol: CTDSP1
  hgvsc: ENST00000443891.1:c.216+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.174+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000498160
  gene symbol: CTDSP1
  hgvsc: ENST00000498160.1:n.438+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.501+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.173+52G>T
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000403256
  ensembl transcript: ENST00000428361
  gene symbol: CTDSP1
  hgvsc: ENST00000428361.1:c.221+52G>T
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-219266785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219266785
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219266785
    reference: chr 2
allele count: 3
allele frequency: 4.788813332056317e-5
allele num: 62646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000473420
  gene symbol: CTDSP1
  hgvsc: ENST00000473420.1:n.502-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000464255
  gene symbol: CTDSP1
  hgvsc: ENST00000464255.1:n.198-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000482272
  gene symbol: CTDSP1
  hgvsc: ENST00000482272.1:n.547-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000488627
  gene symbol: CTDSP1
  hgvsc: ENST00000488627.1:n.204-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000497677
  gene symbol: CTDSP1
  hgvsc: ENST00000497677.1:n.237-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000273062
  ensembl transcript: ENST00000273062
  gene symbol: CTDSP1
  hgvsc: ENST00000273062.2:c.217-49G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl protein: ENSP00000404301
  ensembl transcript: ENST00000452977
  gene symbol: CTDSP1
  hgvsc: ENST00000452977.1:c.174-52G>A
  variant of: http://identifiers.org/hgnc/21614
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144579
  ensembl transcript: ENST00000494067
  gene symbol: CTDSP1
  hgvsc: ENST00000494067.1:n.175-49G>A
  variant of: http://identifiers.org/hgnc/21614
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24682
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 15998
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 1.762e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.425e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.829677e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1081
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 7.75e1
variant carriers: 0

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

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

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

African
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allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
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VQSLOD
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SIO_000300: -5.426e-1

MQRankSum
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FS
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SIO_000300: 1.157e0

BaseQRankSum
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SIO_000300: -3.269e0

QD
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ReadPosRankSum
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SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

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: 10352
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

East Asian
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allele frequency: 8.101851851851852e-4
allele num: 8640
num of homozygotes: 0

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: 6.225099601593625e-5
allele num: 16064
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MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
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SIO_000300: -1.96e-1

BaseQRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
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SIO_000300: 2.9e-3

DP
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SIO_000300: 1.833636e6

BaseQRankSum
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SIO_000300: -2.148e0

ClippingRankSum
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SIO_000300: -8.0e-1

MQRankSum
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SIO_000300: 1.72e-1

ReadPosRankSum
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SIO_000300: 1.59e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

South Asian
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allele 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
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num of homozygotes: 0

Other
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Latino
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allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

BaseQRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
type: SiteQuality
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.9e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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South Asian
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East Asian
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QD
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

Other
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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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: 6.020650832354978e-5
allele num: 66438
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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 count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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SIO_000300: 8.61e-1

BaseQRankSum
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SIO_000300: 7.03e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 11570
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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VQSLOD
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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SIO_000300: 2.439e0

ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011503945070168e-5
allele num: 66412
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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African
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South Asian
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Other
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8644
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

Other
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MQ
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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 (Non-Finnish)
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allele count: 3
allele frequency: 4.523249502442555e-5
allele num: 66324
num of homozygotes: 0

South Asian
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European (Finnish)
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allele num: 6608
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East Asian
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allele count: 0
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Latino
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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SIO_000300: 5.962e1

MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

East Asian
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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

African
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South Asian
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Other
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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African
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allele num: 10328
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Other
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East Asian
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South Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 5.314625850340137e-4
allele num: 65856
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Other
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African
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European (Finnish)
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East Asian
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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allele num: 11536
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European (Finnish)
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South Asian
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African
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Other
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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MQ
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DP
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MQRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
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SIO_000300: -1.445e0

InbreedingCoeff
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SIO_000300: -7.0e-4

DP
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SIO_000300: 1.773053e6

MQ
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

GenotypeDepth
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variant carriers: 45

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
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allele count: 204
allele frequency: 1.402833172878559e-2
allele num: 14542
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.445735249159278e-3
allele num: 6542
num of homozygotes: 0

Latino
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allele count: 93
allele frequency: 8.098223615464995e-3
allele num: 11484
num of homozygotes: 0

African
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allele count: 508
allele frequency: 5.012828103414249e-2
allele num: 10134
num of homozygotes: 11

Other
type: Population
allele count: 10
allele frequency: 1.157407407407407e-2
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 256
allele frequency: 3.935313287831274e-3
allele num: 65052
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -3.255e0

DP
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SIO_000300: 1.760721e6

FS
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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SIO_000300: -5.1e-2

InbreedingCoeff
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SIO_000300: 2.87e-2

VQSLOD
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SIO_000300: 5.66e0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537751806858373e-5
allele num: 65030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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SIO_000300: 5.580000000000001e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

QD
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SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 5.226e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65030
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.921099466086612e-4
allele num: 10114
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 5.226e0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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SIO_000300: -1.743e0

VQSLOD
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SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.739275e6

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 53
allele frequency: 8.113900796080833e-3
allele num: 6532
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.705882352941176e-3
allele num: 850
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 5.2337752965806e-4
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num of homozygotes: 0

South Asian
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allele frequency: 1.758087201125176e-3
allele num: 14220
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European (Non-Finnish)
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allele count: 181
allele frequency: 2.794158510605453e-3
allele num: 64778
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 64672
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 4
allele frequency: 4.669624095260332e-4
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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Other
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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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QD
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InbreedingCoeff
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FS
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DP
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

Other
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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 num: 64486
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South Asian
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 9.2109303039607e-4
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.085506931737121e-4
allele num: 64486
num of homozygotes: 0

Latino
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allele frequency: 5.245672320335723e-4
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num of homozygotes: 0

East Asian
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African
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allele frequency: 1.537847014180148e-2
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South Asian
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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: 0.0e0
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 64492
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QD
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560257130375086e-5
allele num: 64092
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 1.38e0

QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561719140429785e-5
allele num: 64032
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.005e0

FS
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SIO_000300: 1.779e0

VQSLOD
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SIO_000300: -6.54e-1

ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.5e-3

QD
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ReadPosRankSum
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SIO_000300: 6.879999999999999e-1

MQ
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SIO_000300: 5.885e1

MQRankSum
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SIO_000300: 8.97e-1

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63676
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.043735949315349e-4
allele num: 9786
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.645329e6

ReadPosRankSum
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SIO_000300: 1.08e-1

MQRankSum
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SIO_000300: -1.236e0

InbreedingCoeff
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FS
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SIO_000300: 6.922e0

ClippingRankSum
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SIO_000300: -6.5e-2

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.245e0

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.99744081893794e-5
allele num: 12504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
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: 0
allele frequency: 0.0e0
allele num: 62554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.074e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.574765e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.375e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

GenotypeDepth
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variant carriers: 2057

GenotypeDepth
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variant carriers: 204

GenotypeDepth
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variant carriers: 89

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 209

European (Finnish)
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allele count: 1843
allele frequency: 2.996747967479675e-1
allele num: 6150
num of homozygotes: 255

Latino
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allele count: 2590
allele frequency: 2.382704691812328e-1
allele num: 10870
num of homozygotes: 272

African
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allele count: 926
allele frequency: 1.000648368273179e-1
allele num: 9254
num of homozygotes: 53

South Asian
type: Population
allele count: 3406
allele frequency: 2.809767365121267e-1
allele num: 12122
num of homozygotes: 465

Other
type: Population
allele count: 209
allele frequency: 2.645569620253165e-1
allele num: 790
num of homozygotes: 20

East Asian
type: Population
allele count: 796
allele frequency: 1.001006036217304e-1
allele num: 7952
num of homozygotes: 30

European (Non-Finnish)
type: Population
allele count: 18204
allele frequency: 2.961059240703992e-1
allele num: 61478
num of homozygotes: 2512

InbreedingCoeff
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SIO_000300: 2.23e-2

ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.189909566872918e-4
allele num: 58828
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743132059684842e-5
allele num: 57368
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.851508979818552e-5
allele num: 54010
num of homozygotes: 0

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

Latino
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South Asian
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East Asian
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FS
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BaseQRankSum
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QD
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

African
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allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

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

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

East Asian
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South Asian
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.320655044902272e-4
allele num: 7572
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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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 count: 5
allele frequency: 9.756859071927564e-5
allele num: 51246
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European (Finnish)
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allele count: 4
allele frequency: 7.964954201513341e-4
allele num: 5022
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East Asian
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FS
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MQ
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.34e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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East Asian
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allele num: 6872
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Latino
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European (Non-Finnish)
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allele num: 51226
num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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East Asian
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South Asian
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48512
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.071253071253071e-4
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.759e1

VQSLOD
type: SiteQuality
SIO_000300: -8.204e-1

DP
type: SiteQuality
SIO_000300: 8.49266e5

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 1221
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08776984425237e-5
allele num: 47898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
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SIO_000300: 4.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 8.23688e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.175539688504739e-5
allele num: 47898
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.300390117035111e-4
allele num: 7690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 2.419584400797039e-3
allele num: 7026
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.23688e5

FS
type: SiteQuality
SIO_000300: 7.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
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SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 556
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 466
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GenotypeQuality
all individuals: 786
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.421782686873876e-5
allele num: 46716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
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SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.026e1

FS
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 7.94987e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5575
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7149
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GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.131832523236974e-5
allele num: 46908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.39e-2

ReadPosRankSum
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SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 2.876e0

DP
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SIO_000300: 7.91764e5

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 740
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.15740421125302e-5
allele num: 46352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
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DP
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FS
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 2
allele frequency: 3.367003367003367e-4
allele num: 5940
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: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: -2.161e-1

MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 161
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45192
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 2.783964365256125e-4
allele num: 7184
num of homozygotes: 0

Other
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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: 4350
num of homozygotes: 0

QD
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SIO_000300: 9.31e0

FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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SIO_000300: -9.56e-1

MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: -5.33e-1

ClippingRankSum
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SIO_000300: 1.33e-1

DP
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SIO_000300: 7.49235e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45028
num of homozygotes: 0

South Asian
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allele frequency: 1.39703827884884e-4
allele num: 7158
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.177e1

BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.38e0

InbreedingCoeff
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SIO_000300: -1.57e-2

DP
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FS
type: SiteQuality
SIO_000300: 7.16e0

ReadPosRankSum
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SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.473187978786093e-4
allele num: 6788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: 5.36e-1

QD
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SIO_000300: 1.616e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.720578114246387e-4
allele num: 5812
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40154
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.824e1

ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 462
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.737921445950643e-4
allele num: 5754
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.78e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.090301003344482e-4
allele num: 4784
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37978
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

BaseQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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