12-25261760-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261760
    reference: chr 12
allele count: 1
allele frequency: 3.379063323646685e-5
allele num: 29594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-3T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-3T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-3T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-65T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-3T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-65T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-3T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-65T>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5956
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1894-3T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-25261769-A-AAAAAAAAAAAAAAAAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261787
    reference: chr 12
allele count: 2
allele frequency: 5.90946696607966e-5
allele num: 33844
alternate allele: AAAAAAAAAAAAAAAAAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-25261769-A-AAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261772
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 33844
alternate allele: AAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-13_1756-12insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-13_1699-12insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-13_1371-12insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-75_*1676-74insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-75_1540-74insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-13_1894-12insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-13_1876-12insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-75_2068-74insATT
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-25261773-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261771
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 32728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-18_1699-17delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-18_1756-17delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-18_1371-17delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-18_1894-17delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-80_*1676-79delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-18_1876-17delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-80_2068-79delAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-80_1540-79delAA
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17425
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: ATT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-25261773-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261770
    reference: chr 12
allele count: 10
allele frequency: 3.05548765582987e-4
allele num: 32728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-19_1756-17delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-19_1371-17delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-81_2068-79delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-81_*1676-79delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-19_1699-17delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-19_1894-17delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-19_1876-17delGAA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-81_1540-79delGAA
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17425
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: ATTC
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-25261774-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261774
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261774
    reference: chr 12
allele count: 28
allele frequency: 3.350083752093802e-3
allele num: 8358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-17A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-17A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-79A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-17A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-17A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-17A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-79A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-79A>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17715
  bin: 2.5e0
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 7.5e0
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 24679
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 14408
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 21
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-25261775-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261775
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261775
    reference: chr 12
allele count: 25
allele frequency: 2.94256120527307e-3
allele num: 8496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-80A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-18A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-80A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-18A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-18A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-18A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-18A>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-80A>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16737
  bin: 7.5e0
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18168
  bin: 2.5e0
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 23885
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 15129
  bin: 7.5e0
  variant carriers: 25
num of homozygotes: 1
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-25261776-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261776
    reference: chr 12
allele count: 29
allele frequency: 2.837573385518591e-3
allele num: 10220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-81G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-19G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-81G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-19G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-81G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-19G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-19G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-19G>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 2.5e0
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 7.5e0
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 8996
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 16534
  bin: 7.5e0
  variant carriers: 25
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-25261778-AGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261776
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 28296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-23_1756-22delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-23_1894-22delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-23_1371-22delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-23_1699-22delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-85_1540-84delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-85_2068-84delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-23_1876-22delGC
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-85_*1676-84delGC
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20320
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15678
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: AGC
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-25261779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261779
    reference: chr 12
allele count: 21
allele frequency: 1.778154106689246e-3
allele num: 11810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-84C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-84C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-84C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20594
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 18629
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 16646
  bin: 2.5e0
  variant carriers: 6
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: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/12-25261780-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25261780
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25261780
    reference: chr 12
allele count: 21
allele frequency: 1.730959446092977e-3
allele num: 12132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1371-23G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1876-23G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1756-23G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1894-23G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1699-23G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1540-85G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2068-85G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1676-85G>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21332
  bin: 2.5e0
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19448
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15211
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 6
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25263014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263014
    reference: chr 12
allele count: 1
allele frequency: 9.226964882171658e-6
allele num: 108378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1893+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1875+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1370+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1675+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2067+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1698+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1539+47G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1755+47G>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-25263022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263022
    reference: chr 12
allele count: 1
allele frequency: 9.192359310940746e-6
allele num: 108786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1698+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1875+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1755+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2067+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1893+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1370+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1675+39C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1539+39C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-25263024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263024
    reference: chr 12
allele count: 12
allele frequency: 1.101119471462654e-4
allele num: 108980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1698+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1370+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1539+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1893+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2067+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1755+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1675+37T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1875+37T>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19807
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-25263046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263046
    reference: chr 12
allele count: 69
allele frequency: 6.031468531468531e-4
allele num: 114400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2067+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1755+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1370+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1698+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1875+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1675+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1893+15A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1539+15A>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 31334
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-25263058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263058
    reference: chr 12
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1539+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1875+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1893+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2067+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1370+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1675+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1698+3A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1755+3A>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1893+3A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-25263069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263069
    reference: chr 12
allele count: 11
allele frequency: 9.170640610931403e-5
allele num: 119948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1362G>A
  hgvsp: ENSP00000451813.2:p.Val455Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1531G>A
  hgvsp: ENSP00000444715.1:p.Val511Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1747G>A
  hgvsp: ENSP00000379313.2:p.Val583Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1667G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2059G>A
  hgvsp: ENSP00000346126.5:p.Val687Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1867G>A
  hgvsp: ENSP00000313141.9:p.Val623Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1885G>A
  hgvsp: ENSP00000379310.3:p.Val629Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1690G>A
  hgvsp: ENSP00000437373.1:p.Val564Ile
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val629Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

12-25263070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263070
    reference: chr 12
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1746C>T
  hgvsp: ENST00000395990.2:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1666C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1866C>T
  hgvsp: ENST00000320267.9:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1884C>T
  hgvsp: ENST00000395987.3:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1530C>T
  hgvsp: ENST00000537577.1:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1689C>T
  hgvsp: ENST00000545133.1:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1361C>T
  hgvsp: ENST00000556006.2:c.1361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2058C>T
  hgvsp: ENST00000354189.5:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val628Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-25263088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263088
    reference: chr 12
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2040A>G
  hgvsp: ENST00000354189.5:c.2040A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1343A>G
  hgvsp: ENST00000556006.2:c.1343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1671A>G
  hgvsp: ENST00000545133.1:c.1671A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1848A>G
  hgvsp: ENST00000320267.9:c.1848A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1648A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1512A>G
  hgvsp: ENST00000537577.1:c.1512A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1728A>G
  hgvsp: ENST00000395990.2:c.1728A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1866A>G
  hgvsp: ENST00000395987.3:c.1866A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu622Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-25263104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263104
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1832G>T
  hgvsp: ENSP00000313141.9:p.Ser611Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1496G>T
  hgvsp: ENSP00000444715.1:p.Ser499Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.2024G>T
  hgvsp: ENSP00000346126.5:p.Ser675Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1655G>T
  hgvsp: ENSP00000437373.1:p.Ser552Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1327G>T
  hgvsp: ENSP00000451813.2:p.Ser443Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1712G>T
  hgvsp: ENSP00000379313.2:p.Ser571Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1632G>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1850G>T
  hgvsp: ENSP00000379310.3:p.Ser617Ile
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser617Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

12-25263130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263130
    reference: chr 12
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1686A>G
  hgvsp: ENST00000395990.2:c.1686A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1824A>G
  hgvsp: ENST00000395987.3:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1629A>G
  hgvsp: ENST00000545133.1:c.1629A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1806A>G
  hgvsp: ENST00000320267.9:c.1806A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1470A>G
  hgvsp: ENST00000537577.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1606A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1998A>G
  hgvsp: ENST00000354189.5:c.1998A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1301A>G
  hgvsp: ENST00000556006.2:c.1301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu608Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-25263141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263141
    reference: chr 12
allele count: 9
allele frequency: 7.4360499702558e-5
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1459A>G
  hgvsp: ENSP00000444715.1:p.Met487Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1813A>G
  hgvsp: ENSP00000379310.3:p.Met605Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1290A>G
  hgvsp: ENSP00000451813.2:p.Met431Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1595A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1675A>G
  hgvsp: ENSP00000379313.2:p.Met559Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1618A>G
  hgvsp: ENSP00000437373.1:p.Met540Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1795A>G
  hgvsp: ENSP00000313141.9:p.Met599Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1987A>G
  hgvsp: ENSP00000346126.5:p.Met663Val
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met605Val
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-25263147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263147
    reference: chr 12
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1669C>T
  hgvsp: ENSP00000379313.2:p.Arg557Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1981C>T
  hgvsp: ENSP00000346126.5:p.Arg661Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1612C>T
  hgvsp: ENSP00000437373.1:p.Arg538Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1589C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1807C>T
  hgvsp: ENSP00000379310.3:p.Arg603Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1789C>T
  hgvsp: ENSP00000313141.9:p.Arg597Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1453C>T
  hgvsp: ENSP00000444715.1:p.Arg485Ter
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1284C>T
  hgvsp: ENSP00000451813.2:p.Arg429Ter
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg603Ter
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-25263150-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263150
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263150
    reference: chr 12
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1804T>G
  hgvsp: ENSP00000379310.3:p.Tyr602Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1978T>G
  hgvsp: ENSP00000346126.5:p.Tyr660Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1786T>G
  hgvsp: ENSP00000313141.9:p.Tyr596Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1281T>G
  hgvsp: ENSP00000451813.2:p.Tyr428Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1450T>G
  hgvsp: ENSP00000444715.1:p.Tyr484Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1586T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1666T>G
  hgvsp: ENSP00000379313.2:p.Tyr556Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1609T>G
  hgvsp: ENSP00000437373.1:p.Tyr537Asp
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr602Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/12-25263151-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263151
    reference: chr 12
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1449T>G
  hgvsp: ENST00000537577.1:c.1449T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1665T>G
  hgvsp: ENST00000395990.2:c.1665T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1585T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1785T>G
  hgvsp: ENST00000320267.9:c.1785T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1977T>G
  hgvsp: ENST00000354189.5:c.1977T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1608T>G
  hgvsp: ENST00000545133.1:c.1608T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1803T>G
  hgvsp: ENST00000395987.3:c.1803T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1280T>G
  hgvsp: ENST00000556006.2:c.1280T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala601Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-25263160-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263160
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263160
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1599A>C
  hgvsp: ENSP00000437373.1:p.Glu533Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1440A>C
  hgvsp: ENSP00000444715.1:p.Glu480Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1271A>C
  hgvsp: ENSP00000451813.2:p.Glu424Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1794A>C
  hgvsp: ENSP00000379310.3:p.Glu598Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1776A>C
  hgvsp: ENSP00000313141.9:p.Glu592Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1656A>C
  hgvsp: ENSP00000379313.2:p.Glu552Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1968A>C
  hgvsp: ENSP00000346126.5:p.Glu656Asp
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1576A>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu598Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-25263164-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263164
    reference: chr 12
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1572T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1772T>C
  hgvsp: ENSP00000313141.9:p.Val591Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1652T>C
  hgvsp: ENSP00000379313.2:p.Val551Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1790T>C
  hgvsp: ENSP00000379310.3:p.Val597Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1595T>C
  hgvsp: ENSP00000437373.1:p.Val532Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1964T>C
  hgvsp: ENSP00000346126.5:p.Val655Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1267T>C
  hgvsp: ENSP00000451813.2:p.Val423Ala
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1436T>C
  hgvsp: ENSP00000444715.1:p.Val479Ala
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val597Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25263174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263174
    reference: chr 12
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257G>A
  hgvsp: ENSP00000451813.2:p.Val420Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762G>A
  hgvsp: ENSP00000313141.9:p.Val588Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426G>A
  hgvsp: ENSP00000444715.1:p.Val476Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954G>A
  hgvsp: ENSP00000346126.5:p.Val652Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585G>A
  hgvsp: ENSP00000437373.1:p.Val529Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642G>A
  hgvsp: ENSP00000379313.2:p.Val548Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780G>A
  hgvsp: ENSP00000379310.3:p.Val594Ile
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val594Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-25263186-AAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263182
    reference: chr 12
allele count: 13
allele frequency: 1.099440131256237e-4
allele num: 118242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-16_1780-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-16_1257-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-16_1762-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-16_1954-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-16_*1562-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-16_1642-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-16_1426-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-16_1585-13delGTTT
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13665
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: AAAAC
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-25263192-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263192
    reference: chr 12
allele count: 1
allele frequency: 8.520935939603607e-6
allele num: 117358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-18T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-18T>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-25263193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263193
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263193
    reference: chr 12
allele count: 1
allele frequency: 8.528493697443158e-6
allele num: 117254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-19T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-19T>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-25263196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263196
    reference: chr 12
allele count: 1
allele frequency: 8.551101381857983e-6
allele num: 116944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-22C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-22C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-25263197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263197
    reference: chr 12
allele count: 3
allele frequency: 2.567086527929901e-5
allele num: 116864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-23T>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-23T>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

12-25263201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263201
    reference: chr 12
allele count: 1
allele frequency: 8.60733344809778e-6
allele num: 116180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-27C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-27C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-25263202-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263202
    reference: chr 12
allele count: 1
allele frequency: 8.607629803057431e-6
allele num: 116176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-28T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-28T>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-25263226-TCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25263226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25263222
    reference: chr 12
allele count: 2
allele frequency: 1.79600926740782e-5
allele num: 111358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1562-56_*1562-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1257-56_1257-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1426-56_1426-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1642-56_1642-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1762-56_1762-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1780-56_1780-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1954-56_1954-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1585-56_1585-53delGAGG
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: TCCTC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-25264656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264656
    reference: chr 12
allele count: 1
allele frequency: 9.112281533050245e-6
allele num: 109742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+50G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+50G>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

12-25264663-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264663
    reference: chr 12
allele count: 1
allele frequency: 9.045026140125545e-6
allele num: 110558
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+43A>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+43A>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

12-25264670-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264670
    reference: chr 12
allele count: 5
allele frequency: 4.464205996321494e-5
allele num: 112002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+36C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+36C>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

12-25264673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264673
    reference: chr 12
allele count: 14
allele frequency: 1.238214847964906e-4
allele num: 113066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+33G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+33G>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34771
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6056
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

12-25264674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264674
    reference: chr 12
allele count: 4
allele frequency: 3.520444984246009e-5
allele num: 113622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+32C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+32C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

12-25264695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264695
    reference: chr 12
allele count: 1
allele frequency: 8.418500496691529e-6
allele num: 118786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+11A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+11A>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-25264697-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264697
    reference: chr 12
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+9G>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+9G>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-25264698-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264697
    reference: chr 12
allele count: 3
allele frequency: 2.517581108071365e-5
allele num: 119162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761+7delA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779+7delA
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1779+7delA
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: AT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-25264706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264706
    reference: chr 12
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1761G>A
  hgvsp: ENST00000320267.9:c.1761G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1584G>A
  hgvsp: ENST00000545133.1:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1256G>A
  hgvsp: ENST00000556006.2:c.1256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1779G>A
  hgvsp: ENST00000395987.3:c.1779G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1641G>A
  hgvsp: ENST00000395990.2:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1425G>A
  hgvsp: ENST00000537577.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1561G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1953G>A
  hgvsp: ENST00000354189.5:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38909
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1779G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-25264710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264710
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264710
    reference: chr 12
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1775A>G
  hgvsp: ENSP00000379310.3:p.Asn592Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1580A>G
  hgvsp: ENSP00000437373.1:p.Asn527Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1421A>G
  hgvsp: ENSP00000444715.1:p.Asn474Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1757A>G
  hgvsp: ENSP00000313141.9:p.Asn586Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1637A>G
  hgvsp: ENSP00000379313.2:p.Asn546Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1949A>G
  hgvsp: ENSP00000346126.5:p.Asn650Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1252A>G
  hgvsp: ENSP00000451813.2:p.Asn418Ser
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1557A>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn592Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-25264715-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264712
    reference: chr 12
allele count: 32
allele frequency: 2.663337494798169e-4
allele num: 120150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1244_1246delTAT
  hgvsp: ENSP00000451813.2:p.Ile416del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1549_*1551delTAT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1767_1769delTAT
  hgvsp: ENSP00000379310.3:p.Ile590del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1941_1943delTAT
  hgvsp: ENSP00000346126.5:p.Ile648del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1572_1574delTAT
  hgvsp: ENSP00000437373.1:p.Ile525del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1629_1631delTAT
  hgvsp: ENSP00000379313.2:p.Ile544del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1413_1415delTAT
  hgvsp: ENSP00000444715.1:p.Ile472del
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1749_1751delTAT
  hgvsp: ENSP00000313141.9:p.Ile584del
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile590del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: TATA
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-25264717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264717
    reference: chr 12
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1414A>G
  hgvsp: ENSP00000444715.1:p.Ile472Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1942A>G
  hgvsp: ENSP00000346126.5:p.Ile648Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1573A>G
  hgvsp: ENSP00000437373.1:p.Ile525Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1630A>G
  hgvsp: ENSP00000379313.2:p.Ile544Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1768A>G
  hgvsp: ENSP00000379310.3:p.Ile590Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1550A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1750A>G
  hgvsp: ENSP00000313141.9:p.Ile584Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1245A>G
  hgvsp: ENSP00000451813.2:p.Ile416Val
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile590Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-25264723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264723
    reference: chr 12
allele count: 24
allele frequency: 1.993223041658362e-4
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1567G>A
  hgvsp: ENSP00000437373.1:p.Val523Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1762G>A
  hgvsp: ENSP00000379310.3:p.Val588Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1544G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1936G>A
  hgvsp: ENSP00000346126.5:p.Val646Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1744G>A
  hgvsp: ENSP00000313141.9:p.Val582Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1239G>A
  hgvsp: ENSP00000451813.2:p.Val414Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1408G>A
  hgvsp: ENSP00000444715.1:p.Val470Ile
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1624G>A
  hgvsp: ENSP00000379313.2:p.Val542Ile
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38924
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val588Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-25264724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264724
    reference: chr 12
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1543T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1623T>C
  hgvsp: ENST00000395990.2:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1238T>C
  hgvsp: ENST00000556006.2:c.1238T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1407T>C
  hgvsp: ENST00000537577.1:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1566T>C
  hgvsp: ENST00000545133.1:c.1566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1761T>C
  hgvsp: ENST00000395987.3:c.1761T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1743T>C
  hgvsp: ENST00000320267.9:c.1743T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1935T>C
  hgvsp: ENST00000354189.5:c.1935T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr587Tyr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-25264727-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264727
    reference: chr 12
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1758T>G
  hgvsp: ENSP00000379310.3:p.Phe586Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1563T>G
  hgvsp: ENSP00000437373.1:p.Phe521Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1740T>G
  hgvsp: ENSP00000313141.9:p.Phe580Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1620T>G
  hgvsp: ENSP00000379313.2:p.Phe540Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1404T>G
  hgvsp: ENSP00000444715.1:p.Phe468Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1235T>G
  hgvsp: ENSP00000451813.2:p.Phe412Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1932T>G
  hgvsp: ENSP00000346126.5:p.Phe644Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1540T>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe586Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-25264733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264733
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264733
    reference: chr 12
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1926T>C
  hgvsp: ENST00000354189.5:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1752T>C
  hgvsp: ENST00000395987.3:c.1752T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1398T>C
  hgvsp: ENST00000537577.1:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1614T>C
  hgvsp: ENST00000395990.2:c.1614T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1229T>C
  hgvsp: ENST00000556006.2:c.1229T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1557T>C
  hgvsp: ENST00000545133.1:c.1557T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1534T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1734T>C
  hgvsp: ENST00000320267.9:c.1734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser584Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25264741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264741
    reference: chr 12
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1526A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1390A>G
  hgvsp: ENSP00000444715.1:p.Arg464Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1221A>G
  hgvsp: ENSP00000451813.2:p.Arg408Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1606A>G
  hgvsp: ENSP00000379313.2:p.Arg536Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1549A>G
  hgvsp: ENSP00000437373.1:p.Arg517Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1726A>G
  hgvsp: ENSP00000313141.9:p.Arg576Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1744A>G
  hgvsp: ENSP00000379310.3:p.Arg582Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1918A>G
  hgvsp: ENSP00000346126.5:p.Arg640Gly
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg582Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-25264759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264759
    reference: chr 12
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1708C>A
  hgvsp: ENSP00000313141.9:p.Leu570Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1372C>A
  hgvsp: ENSP00000444715.1:p.Leu458Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1588C>A
  hgvsp: ENSP00000379313.2:p.Leu530Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1531C>A
  hgvsp: ENSP00000437373.1:p.Leu511Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.395C>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1203C>A
  hgvsp: ENSP00000451813.2:p.Leu402Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1900C>A
  hgvsp: ENSP00000346126.5:p.Leu634Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1726C>A
  hgvsp: ENSP00000379310.3:p.Leu576Met
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1508C>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu576Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-25264764-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264764
    reference: chr 12
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1583C>G
  hgvsp: ENSP00000379313.2:p.Ala528Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1503C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1367C>G
  hgvsp: ENSP00000444715.1:p.Ala456Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1721C>G
  hgvsp: ENSP00000379310.3:p.Ala574Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1526C>G
  hgvsp: ENSP00000437373.1:p.Ala509Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1895C>G
  hgvsp: ENSP00000346126.5:p.Ala632Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.390C>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1198C>G
  hgvsp: ENSP00000451813.2:p.Ala400Gly
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1703C>G
  hgvsp: ENSP00000313141.9:p.Ala568Gly
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala574Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-25264772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264772
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264772
    reference: chr 12
allele count: 4
allele frequency: 3.301583109100814e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1575G>A
  hgvsp: ENST00000395990.2:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1695G>A
  hgvsp: ENST00000320267.9:c.1695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1713G>A
  hgvsp: ENST00000395987.3:c.1713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1518G>A
  hgvsp: ENST00000545133.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1495G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1359G>A
  hgvsp: ENST00000537577.1:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1190G>A
  hgvsp: ENST00000556006.2:c.1190G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1887G>A
  hgvsp: ENST00000354189.5:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.382G>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu571Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-25264788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264788
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264788
    reference: chr 12
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1343C>T
  hgvsp: ENSP00000444715.1:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1559C>T
  hgvsp: ENSP00000379313.2:p.Pro520Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1871C>T
  hgvsp: ENSP00000346126.5:p.Pro624Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1502C>T
  hgvsp: ENSP00000437373.1:p.Pro501Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1174C>T
  hgvsp: ENSP00000451813.2:p.Pro392Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1479C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.366C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1697C>T
  hgvsp: ENSP00000379310.3:p.Pro566Leu
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1679C>T
  hgvsp: ENSP00000313141.9:p.Pro560Leu
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41197
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro566Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-25264792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264792
    reference: chr 12
allele count: 98
allele frequency: 8.086475781830184e-4
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1675A>G
  hgvsp: ENSP00000313141.9:p.Ile559Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1498A>G
  hgvsp: ENSP00000437373.1:p.Ile500Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1693A>G
  hgvsp: ENSP00000379310.3:p.Ile565Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.362A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1867A>G
  hgvsp: ENSP00000346126.5:p.Ile623Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1555A>G
  hgvsp: ENSP00000379313.2:p.Ile519Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1339A>G
  hgvsp: ENSP00000444715.1:p.Ile447Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1475A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1170A>G
  hgvsp: ENSP00000451813.2:p.Ile391Val
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile565Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-25264801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264801
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264801
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1466A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1666A>G
  hgvsp: ENSP00000313141.9:p.Met556Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1330A>G
  hgvsp: ENSP00000444715.1:p.Met444Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1684A>G
  hgvsp: ENSP00000379310.3:p.Met562Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1489A>G
  hgvsp: ENSP00000437373.1:p.Met497Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1546A>G
  hgvsp: ENSP00000379313.2:p.Met516Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1858A>G
  hgvsp: ENSP00000346126.5:p.Met620Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.353A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1161A>G
  hgvsp: ENSP00000451813.2:p.Met388Val
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met562Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

12-25264819-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264817
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1646_1647delCT
  hgvsp: ENSP00000313141.9:p.Ser549TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1838_1839delCT
  hgvsp: ENSP00000346126.5:p.Ser613TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1664_1665delCT
  hgvsp: ENSP00000379310.3:p.Ser555TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1526_1527delCT
  hgvsp: ENSP00000379313.2:p.Ser509TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1141_1142delCT
  hgvsp: ENSP00000451813.2:p.Ser381TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1310_1311delCT
  hgvsp: ENSP00000444715.1:p.Ser437TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.333_334delCT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1469_1470delCT
  hgvsp: ENSP00000437373.1:p.Ser490TyrfsTer27
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1446_*1447delCT
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser555TyrfsTer27
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TAG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-25264824-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264824
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264822
    reference: chr 12
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1464_1465delCA
  hgvsp: ENSP00000437373.1:p.Ile489LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1521_1522delCA
  hgvsp: ENSP00000379313.2:p.Ile508LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1136_1137delCA
  hgvsp: ENSP00000451813.2:p.Ile380LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1659_1660delCA
  hgvsp: ENSP00000379310.3:p.Ile554LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1441_*1442delCA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1833_1834delCA
  hgvsp: ENSP00000346126.5:p.Ile612LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.328_329delCA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1641_1642delCA
  hgvsp: ENSP00000313141.9:p.Ile548LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1305_1306delCA
  hgvsp: ENSP00000444715.1:p.Ile436LeufsTer28
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile554LeufsTer28
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: ATG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

12-25264842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264842
    reference: chr 12
allele count: 2
allele frequency: 1.654889370645572e-5
allele num: 120854
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1643T>C
  hgvsp: ENSP00000379310.3:p.Leu548Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1448T>C
  hgvsp: ENSP00000437373.1:p.Leu483Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1625T>C
  hgvsp: ENSP00000313141.9:p.Leu542Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1425T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1817T>C
  hgvsp: ENSP00000346126.5:p.Leu606Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1120T>C
  hgvsp: ENSP00000451813.2:p.Leu374Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1289T>C
  hgvsp: ENSP00000444715.1:p.Leu430Pro
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.312T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1505T>C
  hgvsp: ENSP00000379313.2:p.Leu502Pro
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu548Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-25264849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264849
    reference: chr 12
allele count: 8
allele frequency: 6.62745422914423e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1810A>G
  hgvsp: ENSP00000346126.5:p.Ile604Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.305A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1636A>G
  hgvsp: ENSP00000379310.3:p.Ile546Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1618A>G
  hgvsp: ENSP00000313141.9:p.Ile540Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1282A>G
  hgvsp: ENSP00000444715.1:p.Ile428Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1113A>G
  hgvsp: ENSP00000451813.2:p.Ile372Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1441A>G
  hgvsp: ENSP00000437373.1:p.Ile481Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1498A>G
  hgvsp: ENSP00000379313.2:p.Ile500Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1418A>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile546Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-25264861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264861
    reference: chr 12
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1270A>G
  hgvsp: ENSP00000444715.1:p.Met424Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1798A>G
  hgvsp: ENSP00000346126.5:p.Met600Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1486A>G
  hgvsp: ENSP00000379313.2:p.Met496Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1429A>G
  hgvsp: ENSP00000437373.1:p.Met477Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1101A>G
  hgvsp: ENSP00000451813.2:p.Met368Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1406A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1624A>G
  hgvsp: ENSP00000379310.3:p.Met542Val
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.293A>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1606A>G
  hgvsp: ENSP00000313141.9:p.Met536Val
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met542Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-25264877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264877
    reference: chr 12
allele count: 1
allele frequency: 8.432840855427377e-6
allele num: 118584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-4C>T
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-4C>T
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38077
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1612-4C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-25264879-TTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264875
    reference: chr 12
allele count: 1
allele frequency: 8.442950980226608e-6
allele num: 118442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-10_1089-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-10_1786-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-10_1594-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-10_1417-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-10_1612-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-10_281-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-10_1258-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-10_1474-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-10_*1394-7delTTTA
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1612-10_1612-7delTTTA
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: TTAAA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-25264886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264886
    reference: chr 12
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-13T>C
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-13T>C
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-25264895-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264895
    reference: chr 12
allele count: 2
allele frequency: 1.709664734745516e-5
allele num: 116982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-22T>G
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-22T>G
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34481
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-25264896-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264897
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 116774
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-24_1612-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-24_*1394-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-24_1786-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-24_281-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-24_1089-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-24_1258-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-24_1474-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-24_1594-23insA
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-24_1417-23insA
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-25264897-G-GAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264900
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 116748
alternate allele: GAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-25_1089-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-25_1594-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-25_1417-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379313
  ensembl transcript: ENST00000395990
  gene symbol: CASC1
  hgvsc: ENST00000395990.2:c.1474-25_1474-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-25_*1394-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-25_1786-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-25_1612-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-25_1258-24insATT
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl transcript: ENST00000555554
  gene symbol: CASC1
  hgvsc: ENST00000555554.1:n.281-25_281-24insATT
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-25264898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25264898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25264898
    reference: chr 12
allele count: 2
allele frequency: 1.718183536365355e-5
allele num: 116402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000346126
  ensembl transcript: ENST00000354189
  gene symbol: CASC1
  hgvsc: ENST00000354189.5:c.1786-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000313141
  ensembl transcript: ENST00000320267
  gene symbol: CASC1
  hgvsc: ENST00000320267.9:c.1594-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000450703
  ensembl transcript: ENST00000554533
  gene symbol: CASC1
  hgvsc: ENST00000554533.1:c.*1394-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000444715
  ensembl transcript: ENST00000537577
  gene symbol: CASC1
  hgvsc: ENST00000537577.1:c.1258-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000379310
  ensembl transcript: ENST00000395987
  gene symbol: CASC1
  hgvsc: ENST00000395987.3:c.1612-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000437373
  ensembl transcript: ENST00000545133
  gene symbol: CASC1
  hgvsc: ENST00000545133.1:c.1417-25G>A
  variant of: http://identifiers.org/hgnc/29599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118307
  ensembl protein: ENSP00000451813
  ensembl transcript: ENST00000556006
  gene symbol: CASC1
  hgvsc: ENST00000556006.2:c.1089-25G>A
  variant of: http://identifiers.org/hgnc/29599
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.493765586034913e-4
allele num: 4010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.764e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 7.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 5.82602e5

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18377
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.332622601279318e-4
allele num: 15008
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 3.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

DP
type: SiteQuality
SIO_000300: 4.96419e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 14063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.96419e5

MQ
type: SiteQuality
SIO_000300: 3.912e1

GenotypeQuality
all individuals: 677
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3953
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

FS
type: SiteQuality
SIO_000300: 2.37353e2

DP
type: SiteQuality
SIO_000300: 4.89695e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

MQ
type: SiteQuality
SIO_000300: 4.996e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 563
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 288
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1722
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 991
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.029220779220779e-4
allele num: 4928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.811989100817438e-4
allele num: 1468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.690440060698028e-4
allele num: 5272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.439262622093823e-4
allele num: 14538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 2.37353e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 4.89695e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 4.996e1

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 6620
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 47
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1431
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 55
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 27

GenotypeQuality
all individuals: 295
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 14
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 36
bin: 7.25e1
variant carriers: 17

East Asian
type: Population
allele count: 1
allele frequency: 2.994011976047904e-3
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.149425287356322e-2
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 4.593175853018373e-3
allele num: 1524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 3.729487817006464e-3
allele num: 4022
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 1.243781094527363e-3
allele num: 804
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.35885e2

QD
type: SiteQuality
SIO_000300: 2.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.561e-1

DP
type: SiteQuality
SIO_000300: 4.7532e5

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.479e2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 4.765e1

GenotypeQuality
all individuals: 7309
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 332
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 44
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1131
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1598
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 425
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 27

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 8

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 5.235602094240838e-3
allele num: 1528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.388888888888889e-3
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 3.180039138943248e-3
allele num: 4088
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 3.08641975308642e-3
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.494505494505495e-3
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.71553e5

FS
type: SiteQuality
SIO_000300: 2.12296e2

VQSLOD
type: SiteQuality
SIO_000300: -2.018e2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 4.805e1

QD
type: SiteQuality
SIO_000300: 2.838e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.526e-1

GenotypeQuality
all individuals: 1829
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 20283
bin: 2.5e0
variant carriers: 19

GenotypeQuality
all individuals: 665
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 25

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 420
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 33
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 71
bin: 6.75e1
variant carriers: 8

African
type: Population
allele count: 9
allele frequency: 4.812834224598931e-3
allele num: 1870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 7.317073170731708e-3
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 3.109452736318408e-3
allele num: 4824
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 2.487562189054726e-3
allele num: 402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.157509157509158e-4
allele num: 1092
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.63988e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 2.957e1

MQ
type: SiteQuality
SIO_000300: 4.928e1

VQSLOD
type: SiteQuality
SIO_000300: -2.131e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.314e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 2.16626e2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 99
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 472
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 3.912e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 4.62136e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 1575
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 9642
bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2202
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 819
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 23
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 25
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 2.293577981651376e-3
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.987220447284345e-4
allele num: 1252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 4.017857142857142e-3
allele num: 2240
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.726121979286536e-3
allele num: 1738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.25134072220236e-3
allele num: 5594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 3.56589e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.187e-1

QD
type: SiteQuality
SIO_000300: 1.926e1

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 4.48065e5

VQSLOD
type: SiteQuality
SIO_000300: -5.781e2

MQ
type: SiteQuality
SIO_000300: 5.026e1

GenotypeQuality
all individuals: 839
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 466
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1651
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 50

GenotypeQuality
all individuals: 26
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 79
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 24
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 589
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variant carriers: 6

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 7.923930269413629e-4
allele num: 1262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.173913043478261e-3
allele num: 460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.572327044025157e-3
allele num: 5724
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.152073732718894e-3
allele num: 1736
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 3.415883859948762e-3
allele num: 2342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.3742e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.114e-1

MQ
type: SiteQuality
SIO_000300: 5.177e1

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 3.83052e2

VQSLOD
type: SiteQuality
SIO_000300: -6.698e2

QD
type: SiteQuality
SIO_000300: 2.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 3159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
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variant carriers: 0

GenotypeQuality
all individuals: 14783
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 641
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variant carriers: 0

GenotypeQuality
all individuals: 651
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variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.475080538184574e-5
allele num: 10554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.311574e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.809e1

MQRankSum
type: SiteQuality
SIO_000300: -2.107e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

VQSLOD
type: SiteQuality
SIO_000300: -2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 635
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variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2867
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variant carriers: 0

GenotypeQuality
all individuals: 21195
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variant carriers: 0

GenotypeQuality
all individuals: 3950
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variant carriers: 0

GenotypeQuality
all individuals: 5081
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variant carriers: 0

GenotypeQuality
all individuals: 5860
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variant carriers: 0

GenotypeQuality
all individuals: 2691
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GenotypeQuality
all individuals: 991
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variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669170422300117e-5
allele num: 59910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.349978e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 4706
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variant carriers: 0

GenotypeQuality
all individuals: 5827
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variant carriers: 0

GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 2794
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 916
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variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.998933901918977e-4
allele num: 60032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13762
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.364641e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 3788
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 423
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GenotypeQuality
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GenotypeQuality
all individuals: 38135
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variant carriers: 0

GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

East Asian
type: Population
allele count: 69
allele frequency: 8.431085043988269e-3
allele num: 8184
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

DP
type: SiteQuality
SIO_000300: 1.520172e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 530
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GenotypeQuality
all individuals: 108
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 178
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GenotypeQuality
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GenotypeQuality
all individuals: 422
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variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.582425e6

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 123
bin: 5.25e1
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GenotypeQuality
all individuals: 4949
bin: 6.75e1
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GenotypeQuality
all individuals: 149
bin: 3.75e1
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GenotypeQuality
all individuals: 3848
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.245485116452858e-4
allele num: 16058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.807985907222549e-4
allele num: 10218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.608966e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

GenotypeQuality
all individuals: 636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.25e1
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GenotypeQuality
all individuals: 131
bin: 5.75e1
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GenotypeQuality
all individuals: 1021
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GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 45327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 6.204243702692642e-5
allele num: 16118
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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
allele num: 8596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 3.676e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 1.610195e6

QD
type: SiteQuality
SIO_000300: 1.505e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.620586e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 2.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.762e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 1.62321e6

GenotypeQuality
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bin: 9.75e1
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
all individuals: 422
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.623625e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352122832847571e-4
allele num: 66562
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.64e-2

QD
type: SiteQuality
SIO_000300: 1.476e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

DP
type: SiteQuality
SIO_000300: 1.623309e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.622282e6

FS
type: SiteQuality
SIO_000300: 3.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.492e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.621831e6

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.471e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
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allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.621284e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.618058e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 181
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.703220191470844e-5
allele num: 11490
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QD
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65974
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.807767752059631e-5
allele num: 10196
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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Other
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allele frequency: 0.0e0
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QD
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

African
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allele num: 10086
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.688204057828663e-4
allele num: 65158
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 1.136363636363636e-3
allele num: 880
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64598
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 1.73e0

MQ
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -3.9e-2

QD
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FS
type: SiteQuality
SIO_000300: 5.321e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64536
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

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

Other
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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: 1
allele frequency: 6.396315722144045e-5
allele num: 15634
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Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.55337392817199e-5
allele num: 64376
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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QD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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allele frequency: 3.003003003003003e-4
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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QD
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MQRankSum
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SIO_000300: 1.06e-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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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
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num of homozygotes: 0

Other
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num of homozygotes: 0

African
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South Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.563183892953167e-5
allele num: 63972
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.563477173233271e-5
allele num: 63960
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Latino
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num of homozygotes: 0

African
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DP
type: SiteQuality
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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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: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.267973856209151e-5
allele num: 61200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.1e-3

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
type: SiteQuality
SIO_000300: 1.339027e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.270971021860702e-4
allele num: 7868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.25240562546262e-5
allele num: 10808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

InbreedingCoeff
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SIO_000300: 1.35e-2

QD
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FS
type: SiteQuality
SIO_000300: 1.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.315398e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.222061435243044e-5
allele num: 60812
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

DP
type: SiteQuality
SIO_000300: 1.391148e6

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2672348959639e-5
allele num: 15956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
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African
type: Population
allele count: 3
allele frequency: 3.263707571801567e-4
allele num: 9192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.624167614097775e-4
allele num: 61570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.079214331966328e-4
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.231226573607342e-5
allele num: 61896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.246096189881324e-5
allele num: 16010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 1.798e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele num: 11390
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East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

QD
type: SiteQuality
SIO_000300: 1.084e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.220107369448512e-4
allele num: 16392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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Latino
type: Population
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allele frequency: 8.770391159445712e-5
allele num: 11402
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65620
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.577e1

BaseQRankSum
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SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.79e-2

DP
type: SiteQuality
SIO_000300: 1.520924e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 1.523281e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
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SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 33

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

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.683769981567099e-4
allele num: 66186
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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

InbreedingCoeff
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SIO_000300: 2.24e-2

MQ
type: SiteQuality
SIO_000300: 5.801e1

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 1.785e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.527374e6

FS
type: SiteQuality
SIO_000300: 2.236e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

DP
type: SiteQuality
SIO_000300: 1.526284e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
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
allele num: 8590
num of homozygotes: 0

African
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allele count: 24
allele frequency: 2.389010551463269e-3
allele num: 10046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.097e0

DP
type: SiteQuality
SIO_000300: 1.530517e6

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.530433e6

QD
type: SiteQuality
SIO_000300: 1.202e1

FS
type: SiteQuality
SIO_000300: 3.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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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 count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 9.928514694201747e-5
allele num: 10072
num of homozygotes: 0

Other
type: Population
allele count: 0
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.134e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.505343971097396e-5
allele num: 66430
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African
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South Asian
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Other
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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South 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

InbreedingCoeff
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SIO_000300: 8.699999999999999e-3

FS
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MQ
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16496
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African
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Other
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European (Non-Finnish)
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InbreedingCoeff
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DP
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16494
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East Asian
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allele frequency: 0.0e0
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Latino
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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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MQ
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.503422601176894e-5
allele num: 66616
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502746675472038e-5
allele num: 66626
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Other
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allele frequency: 0.0e0
allele num: 904
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

DP
type: SiteQuality
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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allele frequency: 9.527108955482419e-4
allele num: 11546
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African
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allele frequency: 8.309178743961353e-3
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Other
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allele frequency: 1.106194690265487e-3
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South Asian
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European (Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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FS
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QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011231894968231e-5
allele num: 66418
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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SIO_000300: -3.27e-1

ClippingRankSum
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MQ
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SIO_000300: 5.968e1

FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.537425e6

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.055170334639735e-4
allele num: 66340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
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SIO_000300: 3.71e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.536135e6

ReadPosRankSum
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SIO_000300: 7.96e-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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African
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allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.134969325153375e-5
allele num: 16300
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.526577718071627e-5
allele num: 65506
num of homozygotes: 0

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

European (Finnish)
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
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.271e0

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 888
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: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
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

Latino
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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: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.641e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.495297e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65108
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Other
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Latino
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African
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South Asian
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QD
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VQSLOD
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MQ
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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African
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.081949024563134e-5
allele num: 64894
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.43823e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 4.712e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1