17-48677227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677227
    reference: chr 17
allele count: 12
allele frequency: 1.102941176470588e-4
allele num: 108800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3690+7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+7C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3690+7C>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-48677228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677228
    reference: chr 17
allele count: 1
allele frequency: 9.195402298850575e-6
allele num: 108750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+8C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+8C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3690+8C>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-48677228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677228
    reference: chr 17
allele count: 1
allele frequency: 9.195402298850575e-6
allele num: 108750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3690+8C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+8C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3690+8C>T
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: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

17-48677235-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677235
    reference: chr 17
allele count: 1
allele frequency: 9.32018565809831e-6
allele num: 107294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3621+15G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3690+15G>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48677238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677238
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677238
    reference: chr 17
allele count: 1
allele frequency: 9.360491238580201e-6
allele num: 106832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3621+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+18A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48677243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677243
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 105906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+23G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-48677256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677256
    reference: chr 17
allele count: 2
allele frequency: 1.94507118960554e-5
allele num: 102824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+36T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3621+36T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-48677257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677257
    reference: chr 17
allele count: 1
allele frequency: 9.787225712999394e-6
allele num: 102174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3690+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+37G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-48677270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48677270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48677270
    reference: chr 17
allele count: 3
allele frequency: 3.054616543803201e-5
allele num: 98212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.135+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3690+50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3621+50G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-48678037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678037
    reference: chr 17
allele count: 4
allele frequency: 3.399510470492249e-5
allele num: 117664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3622-50G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-48678048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678048
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678048
    reference: chr 17
allele count: 18
allele frequency: 1.51811618649214e-4
allele num: 118568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3691-39A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

17-48678050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678050
    reference: chr 17
allele count: 2
allele frequency: 1.686454398273071e-5
allele num: 118592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-37G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-37G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-48678052-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678052
    reference: chr 17
allele count: 2
allele frequency: 1.684976747320887e-5
allele num: 118696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-35C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48678054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678054
    reference: chr 17
allele count: 2
allele frequency: 1.683246646131057e-5
allele num: 118818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3622-33G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3691-33G>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48678061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678061
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678061
    reference: chr 17
allele count: 8
allele frequency: 6.709608158883521e-5
allele num: 119232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3691-26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-26C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-48678068-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678068
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678068
    reference: chr 17
allele count: 555
allele frequency: 4.639459649240132e-3
allele num: 119626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3622-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3622-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.136-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3622-19T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3691-19T>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 3
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-48678081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678081
    reference: chr 17
allele count: 148
allele frequency: 1.233292223592547e-3
allele num: 120004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3622-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3691-6C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3691-6C>G
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-48678089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678089
    reference: chr 17
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3624C>G
  hgvsp: ENSP00000427173.1:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3693C>G
  hgvsp: ENSP00000426098.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3624C>G
  hgvsp: ENSP00000347078.4:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3624C>G
  hgvsp: ENSP00000339302.5:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3693C>G
  hgvsp: ENSP00000426172.2:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3693C>G
  hgvsp: ENSP00000425153.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3624C>G
  hgvsp: ENSP00000350979.5:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3693C>G
  hgvsp: ENSP00000426232.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3693C>G
  hgvsp: ENSP00000421518.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3693C>G
  hgvsp: ENSP00000426814.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3624C>G
  hgvsp: ENSP00000425522.1:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3693C>G
  hgvsp: ENSP00000414388.2:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3693C>G
  hgvsp: ENSP00000352011.5:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3624C>G
  hgvsp: ENSP00000353990.4:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3693C>G
  hgvsp: ENSP00000423155.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3693C>G
  hgvsp: ENSP00000427247.1:p.Ser1231Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3624C>G
  hgvsp: ENSP00000426558.1:p.Ser1208Arg
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1231Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48678093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678093
    reference: chr 17
allele count: 10
allele frequency: 8.319052293562717e-5
allele num: 120206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3628G>C
  hgvsp: ENSP00000347078.4:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3697G>C
  hgvsp: ENSP00000420918.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3697G>C
  hgvsp: ENSP00000423317.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3628G>C
  hgvsp: ENSP00000424664.1:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3697G>C
  hgvsp: ENSP00000352011.5:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3628G>C
  hgvsp: ENSP00000409759.2:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3697G>C
  hgvsp: ENSP00000426261.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3697G>C
  hgvsp: ENSP00000427238.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3697G>C
  hgvsp: ENSP00000425451.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3697G>C
  hgvsp: ENSP00000423112.2:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3697G>C
  hgvsp: ENSP00000427247.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3628G>C
  hgvsp: ENSP00000350979.5:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3697G>C
  hgvsp: ENSP00000425698.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.142G>C
  hgvsp: ENSP00000427697.1:p.Gly48Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3697G>C
  hgvsp: ENSP00000426313.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3628G>C
  hgvsp: ENSP00000427173.1:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3697G>C
  hgvsp: ENSP00000426814.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3628G>C
  hgvsp: ENSP00000422407.1:p.Gly1210Arg
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3697G>C
  hgvsp: ENSP00000423155.1:p.Gly1233Arg
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1233Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

17-48678099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678099
    reference: chr 17
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3634C>T
  hgvsp: ENSP00000426558.1:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3703C>T
  hgvsp: ENSP00000426814.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3703C>T
  hgvsp: ENSP00000423112.2:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3703C>T
  hgvsp: ENSP00000421518.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3703C>T
  hgvsp: ENSP00000352011.5:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3634C>T
  hgvsp: ENSP00000422407.1:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3634C>T
  hgvsp: ENSP00000347078.4:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3703C>T
  hgvsp: ENSP00000426172.2:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3703C>T
  hgvsp: ENSP00000427238.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3703C>T
  hgvsp: ENSP00000426098.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3703C>T
  hgvsp: ENSP00000425451.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3703C>T
  hgvsp: ENSP00000423045.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3634C>T
  hgvsp: ENSP00000350979.5:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3703C>T
  hgvsp: ENSP00000426232.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3703C>T
  hgvsp: ENSP00000422268.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3634C>T
  hgvsp: ENSP00000409759.2:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3634C>T
  hgvsp: ENSP00000339302.5:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3703C>T
  hgvsp: ENSP00000426261.1:p.Arg1235Trp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3634C>T
  hgvsp: ENSP00000353990.4:p.Arg1212Trp
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1235Trp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-48678100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678100
    reference: chr 17
allele count: 192
allele frequency: 1.596487727000599e-3
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3635G>A
  hgvsp: ENSP00000422407.1:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3704G>A
  hgvsp: ENSP00000426172.2:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3704G>A
  hgvsp: ENSP00000425451.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3635G>A
  hgvsp: ENSP00000347078.4:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3635G>A
  hgvsp: ENSP00000424664.1:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3704G>A
  hgvsp: ENSP00000426313.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3704G>A
  hgvsp: ENSP00000423155.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3635G>A
  hgvsp: ENSP00000409759.2:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3704G>A
  hgvsp: ENSP00000426098.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3635G>A
  hgvsp: ENSP00000350979.5:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3635G>A
  hgvsp: ENSP00000353990.4:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3635G>A
  hgvsp: ENSP00000427173.1:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3704G>A
  hgvsp: ENSP00000427238.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3704G>A
  hgvsp: ENSP00000423112.2:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.149G>A
  hgvsp: ENSP00000427697.1:p.Arg50Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3635G>A
  hgvsp: ENSP00000339302.5:p.Arg1212Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3704G>A
  hgvsp: ENSP00000427247.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3704G>A
  hgvsp: ENSP00000425698.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3704G>A
  hgvsp: ENSP00000426814.1:p.Arg1235Gln
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1235Gln
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-48678100-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678100
    reference: chr 17
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3635G>C
  hgvsp: ENSP00000353990.4:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.149G>C
  hgvsp: ENSP00000427697.1:p.Arg50Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3704G>C
  hgvsp: ENSP00000426232.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3704G>C
  hgvsp: ENSP00000423112.2:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3635G>C
  hgvsp: ENSP00000347078.4:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3635G>C
  hgvsp: ENSP00000409759.2:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3635G>C
  hgvsp: ENSP00000339302.5:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3704G>C
  hgvsp: ENSP00000392390.4:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3635G>C
  hgvsp: ENSP00000425522.1:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3635G>C
  hgvsp: ENSP00000427173.1:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3704G>C
  hgvsp: ENSP00000426098.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3704G>C
  hgvsp: ENSP00000426172.2:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3704G>C
  hgvsp: ENSP00000426313.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3704G>C
  hgvsp: ENSP00000427238.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3704G>C
  hgvsp: ENSP00000426814.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3704G>C
  hgvsp: ENSP00000414388.2:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3704G>C
  hgvsp: ENSP00000425698.1:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3635G>C
  hgvsp: ENSP00000422407.1:p.Arg1212Pro
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3704G>C
  hgvsp: ENSP00000352011.5:p.Arg1235Pro
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1235Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-48678105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678105
    reference: chr 17
allele count: 3
allele frequency: 2.493682670567895e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3640C>T
  hgvsp: ENSP00000339302.5:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3640C>T
  hgvsp: ENSP00000427231.1:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3640C>T
  hgvsp: ENSP00000422407.1:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3640C>T
  hgvsp: ENSP00000409759.2:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3709C>T
  hgvsp: ENSP00000426098.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3709C>T
  hgvsp: ENSP00000423045.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3709C>T
  hgvsp: ENSP00000426313.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3709C>T
  hgvsp: ENSP00000426172.2:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3640C>T
  hgvsp: ENSP00000425522.1:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3640C>T
  hgvsp: ENSP00000353990.4:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3709C>T
  hgvsp: ENSP00000392390.4:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3709C>T
  hgvsp: ENSP00000425451.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3709C>T
  hgvsp: ENSP00000423112.2:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3640C>T
  hgvsp: ENSP00000347078.4:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3709C>T
  hgvsp: ENSP00000425153.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3640C>T
  hgvsp: ENSP00000350979.5:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3709C>T
  hgvsp: ENSP00000423155.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3640C>T
  hgvsp: ENSP00000424664.1:p.Arg1214Cys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3709C>T
  hgvsp: ENSP00000423317.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1237Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-48678106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678106
    reference: chr 17
allele count: 2
allele frequency: 1.662289304830613e-5
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3641G>A
  hgvsp: ENSP00000353990.4:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3710G>A
  hgvsp: ENSP00000427238.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3710G>A
  hgvsp: ENSP00000425698.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3710G>A
  hgvsp: ENSP00000414388.2:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3710G>A
  hgvsp: ENSP00000426098.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3641G>A
  hgvsp: ENSP00000409759.2:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3710G>A
  hgvsp: ENSP00000423112.2:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3710G>A
  hgvsp: ENSP00000423155.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3641G>A
  hgvsp: ENSP00000350979.5:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3710G>A
  hgvsp: ENSP00000426172.2:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3710G>A
  hgvsp: ENSP00000425153.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3710G>A
  hgvsp: ENSP00000422268.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3641G>A
  hgvsp: ENSP00000339302.5:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3641G>A
  hgvsp: ENSP00000422407.1:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.155G>A
  hgvsp: ENSP00000427697.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3710G>A
  hgvsp: ENSP00000425451.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3641G>A
  hgvsp: ENSP00000347078.4:p.Arg1214His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3710G>A
  hgvsp: ENSP00000421518.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3710G>A
  hgvsp: ENSP00000420918.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1237His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48678107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678107
    reference: chr 17
allele count: 68
allele frequency: 5.652159457392692e-4
allele num: 120308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3642C>T
  hgvsp: ENST00000358244.5:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.156C>T
  hgvsp: ENST00000506520.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3642C>T
  hgvsp: ENST00000360761.4:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3642C>T
  hgvsp: ENST00000511768.1:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3711C>T
  hgvsp: ENST00000515411.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3711C>T
  hgvsp: ENST00000513689.2:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3711C>T
  hgvsp: ENST00000359106.5:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3642C>T
  hgvsp: ENST00000442258.2:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3642C>T
  hgvsp: ENST00000354983.4:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3711C>T
  hgvsp: ENST00000506406.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3711C>T
  hgvsp: ENST00000513964.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3711C>T
  hgvsp: ENST00000515765.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3642C>T
  hgvsp: ENST00000514717.1:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3711C>T
  hgvsp: ENST00000511765.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3711C>T
  hgvsp: ENST00000504076.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3711C>T
  hgvsp: ENST00000505165.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3711C>T
  hgvsp: ENST00000507510.2:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3642C>T
  hgvsp: ENST00000502264.1:c.3642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3711C>T
  hgvsp: ENST00000515165.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1237Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-48678108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678108
    reference: chr 17
allele count: 2
allele frequency: 1.661874927292972e-5
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3712G>A
  hgvsp: ENSP00000427247.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.157G>A
  hgvsp: ENSP00000427697.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3712G>A
  hgvsp: ENSP00000425153.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3643G>A
  hgvsp: ENSP00000427173.1:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3712G>A
  hgvsp: ENSP00000352011.5:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3712G>A
  hgvsp: ENSP00000423045.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3643G>A
  hgvsp: ENSP00000353990.4:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3712G>A
  hgvsp: ENSP00000425698.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3643G>A
  hgvsp: ENSP00000422407.1:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3712G>A
  hgvsp: ENSP00000426313.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3712G>A
  hgvsp: ENSP00000423112.2:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3643G>A
  hgvsp: ENSP00000409759.2:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3643G>A
  hgvsp: ENSP00000339302.5:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3712G>A
  hgvsp: ENSP00000423155.1:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3712G>A
  hgvsp: ENSP00000392390.4:p.Ala1238Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3643G>A
  hgvsp: ENSP00000427231.1:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3643G>A
  hgvsp: ENSP00000426558.1:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3643G>A
  hgvsp: ENSP00000350979.5:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3643G>A
  hgvsp: ENSP00000425522.1:p.Ala1215Thr
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1238Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

17-48678109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678109
    reference: chr 17
allele count: 2
allele frequency: 1.66198540776812e-5
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.158C>T
  hgvsp: ENSP00000427697.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3713C>T
  hgvsp: ENSP00000425451.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3644C>T
  hgvsp: ENSP00000427231.1:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3713C>T
  hgvsp: ENSP00000427247.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3713C>T
  hgvsp: ENSP00000423155.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3713C>T
  hgvsp: ENSP00000426098.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3713C>T
  hgvsp: ENSP00000423112.2:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3644C>T
  hgvsp: ENSP00000339302.5:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3713C>T
  hgvsp: ENSP00000427238.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3713C>T
  hgvsp: ENSP00000425153.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3644C>T
  hgvsp: ENSP00000350979.5:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3713C>T
  hgvsp: ENSP00000426172.2:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3644C>T
  hgvsp: ENSP00000409759.2:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3644C>T
  hgvsp: ENSP00000347078.4:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3713C>T
  hgvsp: ENSP00000352011.5:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3644C>T
  hgvsp: ENSP00000422407.1:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3644C>T
  hgvsp: ENSP00000424664.1:p.Ala1215Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3713C>T
  hgvsp: ENSP00000426814.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3713C>T
  hgvsp: ENSP00000421518.1:p.Ala1238Val
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1238Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-48678110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678110
    reference: chr 17
allele count: 4
allele frequency: 3.323639385126714e-5
allele num: 120350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3645G>A
  hgvsp: ENST00000503436.1:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3645G>A
  hgvsp: ENST00000354983.4:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3645G>A
  hgvsp: ENST00000352832.5:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3645G>A
  hgvsp: ENST00000510115.1:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3714G>A
  hgvsp: ENST00000504076.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3714G>A
  hgvsp: ENST00000359106.5:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3714G>A
  hgvsp: ENST00000505165.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3714G>A
  hgvsp: ENST00000507336.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3645G>A
  hgvsp: ENST00000358244.5:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3645G>A
  hgvsp: ENST00000511768.1:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3714G>A
  hgvsp: ENST00000416767.4:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3714G>A
  hgvsp: ENST00000515765.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3714G>A
  hgvsp: ENST00000507896.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3714G>A
  hgvsp: ENST00000515165.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3714G>A
  hgvsp: ENST00000513689.2:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3714G>A
  hgvsp: ENST00000503485.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3645G>A
  hgvsp: ENST00000502264.1:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3714G>A
  hgvsp: ENST00000511765.1:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3645G>A
  hgvsp: ENST00000503607.1:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1238Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

17-48678118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678118
    reference: chr 17
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3722G>A
  hgvsp: ENSP00000422268.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3653G>A
  hgvsp: ENSP00000347078.4:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3722G>A
  hgvsp: ENSP00000425698.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3722G>A
  hgvsp: ENSP00000426098.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3722G>A
  hgvsp: ENSP00000427238.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3653G>A
  hgvsp: ENSP00000422407.1:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3653G>A
  hgvsp: ENSP00000350979.5:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3722G>A
  hgvsp: ENSP00000352011.5:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3722G>A
  hgvsp: ENSP00000425451.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3722G>A
  hgvsp: ENSP00000423112.2:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3722G>A
  hgvsp: ENSP00000423317.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3722G>A
  hgvsp: ENSP00000423155.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3653G>A
  hgvsp: ENSP00000409759.2:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3722G>A
  hgvsp: ENSP00000426172.2:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3653G>A
  hgvsp: ENSP00000424664.1:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.167G>A
  hgvsp: ENSP00000427697.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3722G>A
  hgvsp: ENSP00000426313.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3722G>A
  hgvsp: ENSP00000425153.1:p.Arg1241Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3653G>A
  hgvsp: ENSP00000425522.1:p.Arg1218Gln
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1241Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-48678121-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678121
    reference: chr 17
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3725C>A
  hgvsp: ENSP00000414388.2:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3725C>A
  hgvsp: ENSP00000426172.2:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3656C>A
  hgvsp: ENSP00000353990.4:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3725C>A
  hgvsp: ENSP00000427238.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3656C>A
  hgvsp: ENSP00000424664.1:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3725C>A
  hgvsp: ENSP00000426313.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3725C>A
  hgvsp: ENSP00000426232.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3725C>A
  hgvsp: ENSP00000426098.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3725C>A
  hgvsp: ENSP00000422268.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3725C>A
  hgvsp: ENSP00000425153.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3725C>A
  hgvsp: ENSP00000423317.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3656C>A
  hgvsp: ENSP00000350979.5:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3656C>A
  hgvsp: ENSP00000339302.5:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3656C>A
  hgvsp: ENSP00000422407.1:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3725C>A
  hgvsp: ENSP00000426261.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3725C>A
  hgvsp: ENSP00000421518.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3725C>A
  hgvsp: ENSP00000425698.1:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3656C>A
  hgvsp: ENSP00000426558.1:p.Ala1219Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3725C>A
  hgvsp: ENSP00000423112.2:p.Ala1242Asp
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1242Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS

17-48678124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678124
    reference: chr 17
allele count: 11
allele frequency: 9.133330012122419e-5
allele num: 120438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3659G>A
  hgvsp: ENSP00000350979.5:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3728G>A
  hgvsp: ENSP00000420918.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3728G>A
  hgvsp: ENSP00000427238.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3728G>A
  hgvsp: ENSP00000425153.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3728G>A
  hgvsp: ENSP00000422268.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3728G>A
  hgvsp: ENSP00000423112.2:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3659G>A
  hgvsp: ENSP00000353990.4:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3728G>A
  hgvsp: ENSP00000421518.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3659G>A
  hgvsp: ENSP00000422407.1:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3659G>A
  hgvsp: ENSP00000347078.4:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3659G>A
  hgvsp: ENSP00000427231.1:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3728G>A
  hgvsp: ENSP00000426232.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3659G>A
  hgvsp: ENSP00000409759.2:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3659G>A
  hgvsp: ENSP00000426558.1:p.Arg1220Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3728G>A
  hgvsp: ENSP00000426098.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3728G>A
  hgvsp: ENSP00000425698.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3728G>A
  hgvsp: ENSP00000425451.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3728G>A
  hgvsp: ENSP00000426313.1:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3728G>A
  hgvsp: ENSP00000414388.2:p.Arg1243Gln
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1243Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48678126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678126
    reference: chr 17
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3661C>T
  hgvsp: ENSP00000427173.1:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3661C>T
  hgvsp: ENSP00000350979.5:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.175C>T
  hgvsp: ENSP00000427697.1:p.Leu59Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3730C>T
  hgvsp: ENSP00000423317.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3661C>T
  hgvsp: ENSP00000353990.4:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3730C>T
  hgvsp: ENSP00000422268.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3730C>T
  hgvsp: ENSP00000352011.5:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3730C>T
  hgvsp: ENSP00000425153.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3661C>T
  hgvsp: ENSP00000427231.1:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3730C>T
  hgvsp: ENSP00000423045.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3730C>T
  hgvsp: ENSP00000414388.2:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3730C>T
  hgvsp: ENSP00000426098.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3661C>T
  hgvsp: ENSP00000409759.2:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3730C>T
  hgvsp: ENSP00000420918.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3730C>T
  hgvsp: ENSP00000427247.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3730C>T
  hgvsp: ENSP00000423112.2:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3730C>T
  hgvsp: ENSP00000426313.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3661C>T
  hgvsp: ENSP00000422407.1:p.Leu1221Phe
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3730C>T
  hgvsp: ENSP00000427238.1:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1244Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-48678136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678136
    reference: chr 17
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3740G>A
  hgvsp: ENSP00000423155.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3740G>A
  hgvsp: ENSP00000427238.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3671G>A
  hgvsp: ENSP00000424664.1:p.Cys1224Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3740G>A
  hgvsp: ENSP00000426172.2:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3740G>A
  hgvsp: ENSP00000426098.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3740G>A
  hgvsp: ENSP00000352011.5:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3671G>A
  hgvsp: ENSP00000350979.5:p.Cys1224Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3740G>A
  hgvsp: ENSP00000425153.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3671G>A
  hgvsp: ENSP00000353990.4:p.Cys1224Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3740G>A
  hgvsp: ENSP00000392390.4:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3740G>A
  hgvsp: ENSP00000427247.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3740G>A
  hgvsp: ENSP00000423317.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3740G>A
  hgvsp: ENSP00000426232.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3740G>A
  hgvsp: ENSP00000423112.2:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3740G>A
  hgvsp: ENSP00000425451.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3671G>A
  hgvsp: ENSP00000425522.1:p.Cys1224Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3740G>A
  hgvsp: ENSP00000426814.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3740G>A
  hgvsp: ENSP00000422268.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3740G>A
  hgvsp: ENSP00000420918.1:p.Cys1247Tyr
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys1247Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

17-48678143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678143
    reference: chr 17
allele count: 22
allele frequency: 1.826059529540663e-4
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3747C>T
  hgvsp: ENST00000507510.2:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.192C>T
  hgvsp: ENST00000506520.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3747C>T
  hgvsp: ENST00000507609.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3678C>T
  hgvsp: ENST00000503436.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3678C>T
  hgvsp: ENST00000354983.4:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3747C>T
  hgvsp: ENST00000511765.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3747C>T
  hgvsp: ENST00000510366.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3678C>T
  hgvsp: ENST00000511768.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3678C>T
  hgvsp: ENST00000358244.5:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3678C>T
  hgvsp: ENST00000360761.4:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3747C>T
  hgvsp: ENST00000515165.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3747C>T
  hgvsp: ENST00000503485.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3747C>T
  hgvsp: ENST00000507896.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3747C>T
  hgvsp: ENST00000416767.4:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3678C>T
  hgvsp: ENST00000514717.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3747C>T
  hgvsp: ENST00000514079.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3678C>T
  hgvsp: ENST00000502264.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3747C>T
  hgvsp: ENST00000513964.1:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3678C>T
  hgvsp: ENST00000352832.5:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1249Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

17-48678144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678144
    reference: chr 17
allele count: 3
allele frequency: 2.490081176646359e-5
allele num: 120478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3679G>A
  hgvsp: ENSP00000347078.4:p.Glu1227Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3748G>A
  hgvsp: ENSP00000423045.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3748G>A
  hgvsp: ENSP00000426098.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3748G>A
  hgvsp: ENSP00000427238.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3679G>A
  hgvsp: ENSP00000350979.5:p.Glu1227Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3748G>A
  hgvsp: ENSP00000423112.2:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3748G>A
  hgvsp: ENSP00000423155.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3748G>A
  hgvsp: ENSP00000425698.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3748G>A
  hgvsp: ENSP00000423317.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3748G>A
  hgvsp: ENSP00000426261.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3679G>A
  hgvsp: ENSP00000426558.1:p.Glu1227Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3748G>A
  hgvsp: ENSP00000425451.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3679G>A
  hgvsp: ENSP00000409759.2:p.Glu1227Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3748G>A
  hgvsp: ENSP00000427247.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3748G>A
  hgvsp: ENSP00000426172.2:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3679G>A
  hgvsp: ENSP00000353990.4:p.Glu1227Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3748G>A
  hgvsp: ENSP00000421518.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3748G>A
  hgvsp: ENSP00000426313.1:p.Glu1250Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.193G>A
  hgvsp: ENSP00000427697.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1250Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-48678152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678152
    reference: chr 17
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3687C>T
  hgvsp: ENST00000354983.4:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3756C>T
  hgvsp: ENST00000515765.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3756C>T
  hgvsp: ENST00000514181.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3687C>T
  hgvsp: ENST00000502264.1:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3756C>T
  hgvsp: ENST00000507896.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3756C>T
  hgvsp: ENST00000515165.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3756C>T
  hgvsp: ENST00000514079.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3756C>T
  hgvsp: ENST00000503485.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3756C>T
  hgvsp: ENST00000507510.2:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3756C>T
  hgvsp: ENST00000510366.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3687C>T
  hgvsp: ENST00000358244.5:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3756C>T
  hgvsp: ENST00000513689.2:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3687C>T
  hgvsp: ENST00000442258.2:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3687C>T
  hgvsp: ENST00000360761.4:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3756C>T
  hgvsp: ENST00000504076.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3687C>T
  hgvsp: ENST00000503607.1:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3756C>T
  hgvsp: ENST00000507336.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3756C>T
  hgvsp: ENST00000513964.1:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3687C>T
  hgvsp: ENST00000503436.1:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp1252Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

17-48678159-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678159
    reference: chr 17
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3763T>G
  hgvsp: ENSP00000392390.4:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3763T>G
  hgvsp: ENSP00000426172.2:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3694T>G
  hgvsp: ENSP00000409759.2:p.Ser1232Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3763T>G
  hgvsp: ENSP00000423317.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3694T>G
  hgvsp: ENSP00000350979.5:p.Ser1232Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3763T>G
  hgvsp: ENSP00000426232.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3694T>G
  hgvsp: ENSP00000422407.1:p.Ser1232Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3694T>G
  hgvsp: ENSP00000347078.4:p.Ser1232Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3763T>G
  hgvsp: ENSP00000423112.2:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3763T>G
  hgvsp: ENSP00000425698.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.208T>G
  hgvsp: ENSP00000427697.1:p.Ser70Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3763T>G
  hgvsp: ENSP00000427247.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3763T>G
  hgvsp: ENSP00000425451.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3763T>G
  hgvsp: ENSP00000426098.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3763T>G
  hgvsp: ENSP00000425153.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3763T>G
  hgvsp: ENSP00000426313.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3763T>G
  hgvsp: ENSP00000420918.1:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3763T>G
  hgvsp: ENSP00000352011.5:p.Ser1255Ala
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3694T>G
  hgvsp: ENSP00000339302.5:p.Ser1232Ala
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1255Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-48678187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678187
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678187
    reference: chr 17
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791G>A
  hgvsp: ENSP00000425698.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791G>A
  hgvsp: ENSP00000427238.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791G>A
  hgvsp: ENSP00000426098.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791G>A
  hgvsp: ENSP00000426172.2:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791G>A
  hgvsp: ENSP00000427247.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722G>A
  hgvsp: ENSP00000347078.4:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791G>A
  hgvsp: ENSP00000423112.2:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722G>A
  hgvsp: ENSP00000350979.5:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791G>A
  hgvsp: ENSP00000422268.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236G>A
  hgvsp: ENSP00000427697.1:p.Arg79Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722G>A
  hgvsp: ENSP00000427173.1:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722G>A
  hgvsp: ENSP00000339302.5:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722G>A
  hgvsp: ENSP00000427231.1:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791G>A
  hgvsp: ENSP00000420918.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791G>A
  hgvsp: ENSP00000425153.1:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722G>A
  hgvsp: ENSP00000353990.4:p.Arg1241Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791G>A
  hgvsp: ENSP00000352011.5:p.Arg1264Lys
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1264Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-48678191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678191
    reference: chr 17
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+4A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3791+4A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

17-48678192-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678192
    reference: chr 17
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+5G>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3791+5G>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

17-48678200-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678200
    reference: chr 17
allele count: 1
allele frequency: 8.327365388138501e-6
allele num: 120086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3791+13G>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

17-48678201-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678201
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+14C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+14C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/17-48678213-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678213
    reference: chr 17
allele count: 2
allele frequency: 1.668056713928273e-5
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3791+26C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722+26C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

17-48678216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678216
    reference: chr 17
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+29T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-48678219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678219
    reference: chr 17
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+32C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+32C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-48678221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678221
    reference: chr 17
allele count: 24
allele frequency: 2.006957452502007e-4
allele num: 119584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+34C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-48678222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678222
    reference: chr 17
allele count: 29
allele frequency: 2.423816926600137e-4
allele num: 119646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+35G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722+35G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-48678225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678225
    reference: chr 17
allele count: 1
allele frequency: 8.360085607276618e-6
allele num: 119616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3722+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+38C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-48678235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678235
    reference: chr 17
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+48C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+48C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-48678237-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678237
    reference: chr 17
allele count: 1
allele frequency: 8.401384548173538e-6
allele num: 119028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000392390
  ensembl transcript: ENST00000416767
  gene symbol: CACNA1G
  hgvsc: ENST00000416767.4:c.3791+50C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-48678237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678237
    reference: chr 17
allele count: 26
allele frequency: 2.18435998252512e-4
allele num: 119028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.236+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3791+50C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3722+50C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

17-48678362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678362
    reference: chr 17
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.3792-50G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.3723-50G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48678362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48678362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48678362
    reference: chr 17
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.3723-50G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.3723-50G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.3723-50G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427697
  ensembl transcript: ENST00000506520
  gene symbol: CACNA1G
  hgvsc: ENST00000506520.1:c.237-50G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.3723-50G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.3792-50G>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3621+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3621+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3621+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3621+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3621+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3690+7C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 47
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1503
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7455
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27002
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1828
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 4293
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15890
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 137
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.996539331824837e-4
allele num: 60104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.554e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

DP
type: SiteQuality
SIO_000300: 1.251082e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

FS
type: SiteQuality
SIO_000300: 1.0398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3621+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3621+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+8C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 4315
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7474
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27007
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1806
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15908
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2083
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.014e-1

DP
type: SiteQuality
SIO_000300: 1.250215e6

QD
type: SiteQuality
SIO_000300: 8.35e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3621+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3621+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.3621+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3621+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+8C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1806
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7474
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15908
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2083
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27007
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4315
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663893510815308e-5
allele num: 60100
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.014e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 2.495e0

DP
type: SiteQuality
SIO_000300: 1.250215e6

QD
type: SiteQuality
SIO_000300: 8.35e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.135+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3621+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3621+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3621+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3690+15G>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 4854
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1667
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10864
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23376
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14090
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3573
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9983
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 1.314e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 1.186599e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3621+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3621+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3621+18A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+18A>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1748
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13329
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4271
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4996
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22006
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10606
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.252191334835963e-4
allele num: 7986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.1602e6

FS
type: SiteQuality
SIO_000300: 1.217e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3621+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3621+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3621+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+23G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1909
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1365
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11351
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19100
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14607
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5179
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6519
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.106163e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 1.368e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3621+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3621+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+36T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6816
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16821
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11979
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15088
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 1.4222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.05e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.92272e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3621+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3621+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3621+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3690+37G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 814
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16530
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16634
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6382
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2267
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7052
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755063357787216e-5
allele num: 56978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.956e0

DP
type: SiteQuality
SIO_000300: 9.76728e5

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3621+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3621+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3621+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3690+50G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 16231
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16142
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4253
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2268
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7549
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12843
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8554
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.815804764671702e-5
allele num: 55072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.556420233463035e-4
allele num: 12850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 9.54638e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3622-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3622-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3622-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3622-50G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9474
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4475
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2312
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12795
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1116
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8738
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4432
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14445
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5565
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.557874762808349e-4
allele num: 8432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539598472718315e-5
allele num: 64952
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.572e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.574957e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3622-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3622-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3622-39A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-39A>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3628
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3202
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18557
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 189
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4429
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9081
bin: 3.25e1
variant carriers: 7

GenotypeDepth
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15550
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2305
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 24818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.750087504375219e-4
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.44543620468301e-4
allele num: 65428
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.621041e6

QD
type: SiteQuality
SIO_000300: 1.473e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3622-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3622-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3622-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3691-37G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 59
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19255
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15762
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9166
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3310
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2305
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2544
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5575
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056608387333415e-5
allele num: 65432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.629357e6

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3622-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3622-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3622-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3691-35C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1925
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2867
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16120
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19916
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5578
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223840411210378e-4
allele num: 16342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.582e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.639762e6

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.799e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3622-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3622-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3622-33G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3691-33G>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9357
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16380
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2314
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20446
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2454
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4443
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050826774055769e-5
allele num: 65556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

DP
type: SiteQuality
SIO_000300: 1.649351e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 8.349e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3622-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3622-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3622-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3622-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3622-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3691-26C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9562
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21420
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 693
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4461
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2320
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1117
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1418
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17229
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 4252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8076
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.271939460515074e-4
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.636e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 1.672936e6

FS
type: SiteQuality
SIO_000300: 6.184e0

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-19T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3622-19T>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 21872
bin: 2.25e1
variant carriers: 25

GenotypeDepth
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1153
bin: 4.75e1
variant carriers: 53

GenotypeDepth
all individuals: 794
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 9621
bin: 3.25e1
variant carriers: 50

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 6

GenotypeDepth
all individuals: 414
bin: 5.75e1
variant carriers: 41

GenotypeDepth
all individuals: 2358
bin: 4.25e1
variant carriers: 69

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 10

GenotypeDepth
all individuals: 47
bin: 7.75e1
variant carriers: 13

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 66

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 31

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 234
bin: 6.25e1
variant carriers: 43

GenotypeDepth
all individuals: 4484
bin: 3.75e1
variant carriers: 53

GenotypeDepth
all individuals: 536
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17558
bin: 2.75e1
variant carriers: 31

GenotypeDepth
all individuals: 85
bin: 7.25e1
variant carriers: 26

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 551

GenotypeQuality
all individuals: 3363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 1

African
type: Population
allele count: 9
allele frequency: 9.286009079653323e-4
allele num: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.31115436078336e-3
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.667892156862745e-3
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 2.611875326484416e-3
allele num: 11486
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.494382022471911e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 437
allele frequency: 6.621412770083942e-3
allele num: 65998
num of homozygotes: 3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.609e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.697785e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.294e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3622-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3622-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.136-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3622-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3691-6C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3622-6C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 7

GenotypeDepth
all individuals: 401
bin: 5.75e1
variant carriers: 16

GenotypeDepth
all individuals: 4520
bin: 3.75e1
variant carriers: 10

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 624
bin: 5.25e1
variant carriers: 18

GenotypeDepth
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 9823
bin: 3.25e1
variant carriers: 6

GenotypeDepth
all individuals: 18026
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 22089
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 6

GenotypeDepth
all individuals: 210
bin: 6.25e1
variant carriers: 12

GenotypeDepth
all individuals: 1141
bin: 4.75e1
variant carriers: 12

GenotypeDepth
all individuals: 42
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 365
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2338
bin: 4.25e1
variant carriers: 14

GenotypeDepth
all individuals: 373
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 129
bin: 6.75e1
variant carriers: 9

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5714
bin: 9.75e1
variant carriers: 148

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.612667478684531e-4
allele num: 6568
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 6.077444000694565e-4
allele num: 11518
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.142974696564493e-4
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 130
allele frequency: 1.963153125943824e-3
allele num: 66220
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.704781e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3693C>G
hgvsp: ENSP00000423317.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3693C>G
hgvsp: ENSP00000423112.2:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3624C>G
hgvsp: ENSP00000422407.1:p.Ser1208Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3693C>G
hgvsp: ENSP00000427238.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3624C>G
hgvsp: ENSP00000409759.2:p.Ser1208Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3624C>G
hgvsp: ENSP00000424664.1:p.Ser1208Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3693C>G
hgvsp: ENSP00000425451.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3624C>G
hgvsp: ENSP00000427231.1:p.Ser1208Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3693C>G
hgvsp: ENSP00000426261.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3693C>G
hgvsp: ENSP00000423045.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3693C>G
hgvsp: ENSP00000425698.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3693C>G
hgvsp: ENSP00000426313.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3693C>G
hgvsp: ENSP00000392390.4:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3693C>G
hgvsp: ENSP00000422268.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.138C>G
hgvsp: ENSP00000427697.1:p.Ser46Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3693C>G
hgvsp: ENSP00000420918.1:p.Ser1231Arg
variant of: http://identifiers.org/hgnc/1394

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

GenotypeDepth
all individuals: 18214
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4541
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22025
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1137
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2350
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9928
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30938
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1958
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.146e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.455e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.704882e6

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3697G>C
hgvsp: ENSP00000426172.2:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3697G>C
hgvsp: ENSP00000392390.4:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.3697G>C
hgvsp: ENSP00000426098.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3628G>C
hgvsp: ENSP00000353990.4:p.Gly1210Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3697G>C
hgvsp: ENSP00000426232.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3628G>C
hgvsp: ENSP00000425522.1:p.Gly1210Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3697G>C
hgvsp: ENSP00000414388.2:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3628G>C
hgvsp: ENSP00000427231.1:p.Gly1210Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3697G>C
hgvsp: ENSP00000423045.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3697G>C
hgvsp: ENSP00000421518.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3697G>C
hgvsp: ENSP00000425153.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3697G>C
hgvsp: ENSP00000422268.1:p.Gly1233Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3628G>C
hgvsp: ENSP00000339302.5:p.Gly1210Arg
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3628G>C
hgvsp: ENSP00000426558.1:p.Gly1210Arg
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 4551
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9936
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 244
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18267
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1142
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 121
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22027
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4382
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5613
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.453223460979156e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.706526e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.757e0

QD
type: SiteQuality
SIO_000300: 1.394e1

FS
type: SiteQuality
SIO_000300: 9.432e0

VQSLOD
type: SiteQuality
SIO_000300: -2.338e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3703C>T
hgvsp: ENSP00000392390.4:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3703C>T
hgvsp: ENSP00000420918.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3634C>T
hgvsp: ENSP00000425522.1:p.Arg1212Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3703C>T
hgvsp: ENSP00000414388.2:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3634C>T
hgvsp: ENSP00000424664.1:p.Arg1212Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3703C>T
hgvsp: ENSP00000427247.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.148C>T
hgvsp: ENSP00000427697.1:p.Arg50Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3703C>T
hgvsp: ENSP00000425698.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3703C>T
hgvsp: ENSP00000426313.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3634C>T
hgvsp: ENSP00000427231.1:p.Arg1212Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3703C>T
hgvsp: ENSP00000425153.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3703C>T
hgvsp: ENSP00000423155.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3703C>T
hgvsp: ENSP00000423317.1:p.Arg1235Trp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3634C>T
hgvsp: ENSP00000427173.1:p.Arg1212Trp
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 9966
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 251
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4550
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2356
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21967
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30955
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5604
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

DP
type: SiteQuality
SIO_000300: 1.707767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3704G>A
hgvsp: ENSP00000423045.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3704G>A
hgvsp: ENSP00000352011.5:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3704G>A
hgvsp: ENSP00000414388.2:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3635G>A
hgvsp: ENSP00000427231.1:p.Arg1212Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3704G>A
hgvsp: ENSP00000426232.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3704G>A
hgvsp: ENSP00000422268.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3635G>A
hgvsp: ENSP00000425522.1:p.Arg1212Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3704G>A
hgvsp: ENSP00000425153.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3635G>A
hgvsp: ENSP00000426558.1:p.Arg1212Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3704G>A
hgvsp: ENSP00000423317.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3704G>A
hgvsp: ENSP00000426261.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3704G>A
hgvsp: ENSP00000421518.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3704G>A
hgvsp: ENSP00000420918.1:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3704G>A
hgvsp: ENSP00000392390.4:p.Arg1235Gln
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 9

GenotypeDepth
all individuals: 133
bin: 6.75e1
variant carriers: 13

GenotypeDepth
all individuals: 18308
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 396
bin: 5.75e1
variant carriers: 12

GenotypeDepth
all individuals: 1145
bin: 4.75e1
variant carriers: 15

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.25e1
variant carriers: 18

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 11

GenotypeDepth
all individuals: 9949
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 21880
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 215
bin: 6.25e1
variant carriers: 17

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 14

GenotypeDepth
all individuals: 624
bin: 5.25e1
variant carriers: 13

GenotypeDepth
all individuals: 64
bin: 9.75e1
variant carriers: 38

GenotypeDepth
all individuals: 4536
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 9.75e1
variant carriers: 191

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

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.199306759098787e-4
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 3
allele frequency: 3.078817733990148e-4
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 182
allele frequency: 2.741872307089699e-3
allele num: 66378
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 1.716438e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.3635G>C
hgvsp: ENSP00000350979.5:p.Arg1212Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3704G>C
hgvsp: ENSP00000426261.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3704G>C
hgvsp: ENSP00000423045.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3704G>C
hgvsp: ENSP00000427247.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3704G>C
hgvsp: ENSP00000425451.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3704G>C
hgvsp: ENSP00000420918.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3635G>C
hgvsp: ENSP00000426558.1:p.Arg1212Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3704G>C
hgvsp: ENSP00000422268.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3704G>C
hgvsp: ENSP00000423317.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3635G>C
hgvsp: ENSP00000427231.1:p.Arg1212Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3704G>C
hgvsp: ENSP00000425153.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3704G>C
hgvsp: ENSP00000421518.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3635G>C
hgvsp: ENSP00000424664.1:p.Arg1212Pro
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3704G>C
hgvsp: ENSP00000423155.1:p.Arg1235Pro
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 218
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9949
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 215
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1145
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21880
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 1.716438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3709C>T
hgvsp: ENSP00000427238.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3640C>T
hgvsp: ENSP00000427173.1:p.Arg1214Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3709C>T
hgvsp: ENSP00000352011.5:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3709C>T
hgvsp: ENSP00000426261.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3640C>T
hgvsp: ENSP00000426558.1:p.Arg1214Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3709C>T
hgvsp: ENSP00000422268.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3709C>T
hgvsp: ENSP00000414388.2:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3709C>T
hgvsp: ENSP00000420918.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3709C>T
hgvsp: ENSP00000425698.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3709C>T
hgvsp: ENSP00000426232.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3709C>T
hgvsp: ENSP00000426814.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.154C>T
hgvsp: ENSP00000427697.1:p.Arg52Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3709C>T
hgvsp: ENSP00000421518.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3709C>T
hgvsp: ENSP00000427247.1:p.Arg1237Cys
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1136
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21850
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2353
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18435
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10004
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5596
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3469
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.709479e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3641G>A
hgvsp: ENSP00000424664.1:p.Arg1214His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3710G>A
hgvsp: ENSP00000426261.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3641G>A
hgvsp: ENSP00000427173.1:p.Arg1214His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3641G>A
hgvsp: ENSP00000426558.1:p.Arg1214His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3710G>A
hgvsp: ENSP00000423317.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3710G>A
hgvsp: ENSP00000392390.4:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3710G>A
hgvsp: ENSP00000426814.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3710G>A
hgvsp: ENSP00000352011.5:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3641G>A
hgvsp: ENSP00000425522.1:p.Arg1214His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3710G>A
hgvsp: ENSP00000423045.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3641G>A
hgvsp: ENSP00000427231.1:p.Arg1214His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3710G>A
hgvsp: ENSP00000427247.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3710G>A
hgvsp: ENSP00000426232.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3710G>A
hgvsp: ENSP00000426313.1:p.Arg1237His
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18455
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10007
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8463
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011866755014758e-5
allele num: 66404
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 1.709594e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 9.843e0

QD
type: SiteQuality
SIO_000300: 5.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3711C>T
hgvsp: ENST00000503485.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3642C>T
hgvsp: ENST00000503436.1:c.3642C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3711C>T
hgvsp: ENST00000507896.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3642C>T
hgvsp: ENST00000510115.1:c.3642C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3642C>T
hgvsp: ENST00000352832.5:c.3642C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3711C>T
hgvsp: ENST00000514181.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3711C>T
hgvsp: ENST00000429973.2:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3711C>T
hgvsp: ENST00000514079.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3711C>T
hgvsp: ENST00000507336.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3642C>T
hgvsp: ENST00000503607.1:c.3642C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3711C>T
hgvsp: ENST00000507609.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3711C>T
hgvsp: ENST00000512389.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3711C>T
hgvsp: ENST00000510366.1:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3711C>T
hgvsp: ENST00000416767.4:c.3711C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 18447
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 130
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 21799
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1136
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 17

GenotypeDepth
all individuals: 63
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10003
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 6

GenotypeDepth
all individuals: 4553
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2353
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 131
bin: 6.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5647
bin: 9.75e1
variant carriers: 68

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.529440110833359e-5
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 5.438128462959163e-3
allele num: 9746
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.805852299117511e-4
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.331254331254331e-4
allele num: 11544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

DP
type: SiteQuality
SIO_000300: 1.712612e6

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3712G>A
hgvsp: ENSP00000426172.2:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3712G>A
hgvsp: ENSP00000427238.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3712G>A
hgvsp: ENSP00000426261.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3643G>A
hgvsp: ENSP00000347078.4:p.Ala1215Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3712G>A
hgvsp: ENSP00000422268.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.3712G>A
hgvsp: ENSP00000426098.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3712G>A
hgvsp: ENSP00000420918.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3712G>A
hgvsp: ENSP00000414388.2:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3712G>A
hgvsp: ENSP00000423317.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3712G>A
hgvsp: ENSP00000426814.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3712G>A
hgvsp: ENSP00000421518.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3643G>A
hgvsp: ENSP00000424664.1:p.Ala1215Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3712G>A
hgvsp: ENSP00000426232.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3712G>A
hgvsp: ENSP00000425451.1:p.Ala1238Thr
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21808
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18480
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10018
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31060
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1970
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 1.710028e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 8.21e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3644C>T
hgvsp: ENSP00000353990.4:p.Ala1215Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3713C>T
hgvsp: ENSP00000426313.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3713C>T
hgvsp: ENSP00000392390.4:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3713C>T
hgvsp: ENSP00000420918.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3713C>T
hgvsp: ENSP00000423317.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3713C>T
hgvsp: ENSP00000422268.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3644C>T
hgvsp: ENSP00000425522.1:p.Ala1215Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3644C>T
hgvsp: ENSP00000426558.1:p.Ala1215Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3713C>T
hgvsp: ENSP00000426232.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3644C>T
hgvsp: ENSP00000427173.1:p.Ala1215Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3713C>T
hgvsp: ENSP00000414388.2:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3713C>T
hgvsp: ENSP00000426261.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3713C>T
hgvsp: ENSP00000423045.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3713C>T
hgvsp: ENSP00000425698.1:p.Ala1238Val
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10019
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18491
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5590
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 2.567e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

DP
type: SiteQuality
SIO_000300: 1.710428e6

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.166e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3645G>A
hgvsp: ENST00000442258.2:c.3645G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3645G>A
hgvsp: ENST00000514717.1:c.3645G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3645G>A
hgvsp: ENST00000360761.4:c.3645G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3714G>A
hgvsp: ENST00000506406.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3714G>A
hgvsp: ENST00000507609.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3714G>A
hgvsp: ENST00000514181.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3714G>A
hgvsp: ENST00000512389.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3714G>A
hgvsp: ENST00000507510.2:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3714G>A
hgvsp: ENST00000429973.2:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3714G>A
hgvsp: ENST00000510366.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3714G>A
hgvsp: ENST00000515411.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3714G>A
hgvsp: ENST00000513964.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3714G>A
hgvsp: ENST00000514079.1:c.3714G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.159G>A
hgvsp: ENST00000506520.1:c.159G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10015
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 621
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21804
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18502
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010597302504817e-5
allele num: 66432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.962e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 1.710658e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3653G>A
hgvsp: ENSP00000353990.4:p.Arg1218Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3722G>A
hgvsp: ENSP00000423045.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3722G>A
hgvsp: ENSP00000414388.2:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3722G>A
hgvsp: ENSP00000426814.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3722G>A
hgvsp: ENSP00000426232.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3653G>A
hgvsp: ENSP00000427173.1:p.Arg1218Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3722G>A
hgvsp: ENSP00000426261.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3653G>A
hgvsp: ENSP00000339302.5:p.Arg1218Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3722G>A
hgvsp: ENSP00000392390.4:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3722G>A
hgvsp: ENSP00000421518.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3722G>A
hgvsp: ENSP00000427247.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3653G>A
hgvsp: ENSP00000426558.1:p.Arg1218Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3653G>A
hgvsp: ENSP00000427231.1:p.Arg1218Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3722G>A
hgvsp: ENSP00000420918.1:p.Arg1241Gln
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 18539
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21792
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10035
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4569
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5588
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

VQSLOD
type: SiteQuality
SIO_000300: -3.919e0

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 2.869e0

DP
type: SiteQuality
SIO_000300: 1.711253e6

QD
type: SiteQuality
SIO_000300: 6.3e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3656C>A
hgvsp: ENSP00000427173.1:p.Ala1219Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3656C>A
hgvsp: ENSP00000347078.4:p.Ala1219Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3725C>A
hgvsp: ENSP00000352011.5:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3725C>A
hgvsp: ENSP00000423155.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3656C>A
hgvsp: ENSP00000409759.2:p.Ala1219Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3656C>A
hgvsp: ENSP00000425522.1:p.Ala1219Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.170C>A
hgvsp: ENSP00000427697.1:p.Ala57Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3725C>A
hgvsp: ENSP00000427247.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3725C>A
hgvsp: ENSP00000426814.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3725C>A
hgvsp: ENSP00000425451.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3725C>A
hgvsp: ENSP00000420918.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3725C>A
hgvsp: ENSP00000423045.1:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3656C>A
hgvsp: ENSP00000427231.1:p.Ala1219Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3725C>A
hgvsp: ENSP00000392390.4:p.Ala1242Asp
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4570
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21788
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18576
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 7.42e0

VQSLOD
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.722e0

DP
type: SiteQuality
SIO_000300: 1.711581e6

FS
type: SiteQuality
SIO_000300: 5.157e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3728G>A
hgvsp: ENSP00000426172.2:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3728G>A
hgvsp: ENSP00000423045.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3728G>A
hgvsp: ENSP00000423317.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3659G>A
hgvsp: ENSP00000427173.1:p.Arg1220Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3659G>A
hgvsp: ENSP00000339302.5:p.Arg1220Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3728G>A
hgvsp: ENSP00000423155.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.173G>A
hgvsp: ENSP00000427697.1:p.Arg58Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3728G>A
hgvsp: ENSP00000426814.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3659G>A
hgvsp: ENSP00000424664.1:p.Arg1220Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3728G>A
hgvsp: ENSP00000427247.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3659G>A
hgvsp: ENSP00000425522.1:p.Arg1220Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3728G>A
hgvsp: ENSP00000352011.5:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3728G>A
hgvsp: ENSP00000426261.1:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3728G>A
hgvsp: ENSP00000392390.4:p.Arg1243Gln
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 37
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4572
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18621
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2350
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10022
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21773
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5595
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.27669452181987e-3
allele num: 8616
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.712865e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.151e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 1.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3661C>T
hgvsp: ENSP00000347078.4:p.Leu1221Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3730C>T
hgvsp: ENSP00000425451.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3730C>T
hgvsp: ENSP00000392390.4:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3730C>T
hgvsp: ENSP00000426261.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3661C>T
hgvsp: ENSP00000425522.1:p.Leu1221Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3661C>T
hgvsp: ENSP00000426558.1:p.Leu1221Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3730C>T
hgvsp: ENSP00000426172.2:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3730C>T
hgvsp: ENSP00000426814.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3730C>T
hgvsp: ENSP00000426232.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3661C>T
hgvsp: ENSP00000424664.1:p.Leu1221Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3730C>T
hgvsp: ENSP00000425698.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3661C>T
hgvsp: ENSP00000339302.5:p.Leu1221Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3730C>T
hgvsp: ENSP00000423155.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3730C>T
hgvsp: ENSP00000421518.1:p.Leu1244Phe
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18637
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21787
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10027
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4569
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2350
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5588
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
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: 11552
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.712572e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3671G>A
hgvsp: ENSP00000347078.4:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3671G>A
hgvsp: ENSP00000339302.5:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3671G>A
hgvsp: ENSP00000427231.1:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3740G>A
hgvsp: ENSP00000425698.1:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3740G>A
hgvsp: ENSP00000421518.1:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3671G>A
hgvsp: ENSP00000427173.1:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3671G>A
hgvsp: ENSP00000426558.1:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3740G>A
hgvsp: ENSP00000414388.2:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3740G>A
hgvsp: ENSP00000423045.1:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3740G>A
hgvsp: ENSP00000426313.1:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3671G>A
hgvsp: ENSP00000422407.1:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3671G>A
hgvsp: ENSP00000409759.2:p.Cys1224Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.185G>A
hgvsp: ENSP00000427697.1:p.Cys62Tyr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3740G>A
hgvsp: ENSP00000426261.1:p.Cys1247Tyr
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21751
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10032
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18700
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.713258e6

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3747C>T
hgvsp: ENST00000513689.2:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3747C>T
hgvsp: ENST00000514181.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3678C>T
hgvsp: ENST00000503607.1:c.3678C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3747C>T
hgvsp: ENST00000507336.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3747C>T
hgvsp: ENST00000506406.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3747C>T
hgvsp: ENST00000515765.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3747C>T
hgvsp: ENST00000359106.5:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3747C>T
hgvsp: ENST00000504076.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3678C>T
hgvsp: ENST00000510115.1:c.3678C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3747C>T
hgvsp: ENST00000512389.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3747C>T
hgvsp: ENST00000515411.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3747C>T
hgvsp: ENST00000505165.1:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3747C>T
hgvsp: ENST00000429973.2:c.3747C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3678C>T
hgvsp: ENST00000442258.2:c.3678C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 4566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 126
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10025
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18696
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5606
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3293
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 22
allele frequency: 1.903114186851211e-3
allele num: 11560
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 1.714206e6

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.758e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3679G>A
hgvsp: ENSP00000425522.1:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3679G>A
hgvsp: ENSP00000427173.1:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3679G>A
hgvsp: ENSP00000424664.1:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3748G>A
hgvsp: ENSP00000352011.5:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3679G>A
hgvsp: ENSP00000427231.1:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3679G>A
hgvsp: ENSP00000339302.5:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3679G>A
hgvsp: ENSP00000422407.1:p.Glu1227Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3748G>A
hgvsp: ENSP00000426232.1:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3748G>A
hgvsp: ENSP00000426814.1:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3748G>A
hgvsp: ENSP00000420918.1:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3748G>A
hgvsp: ENSP00000414388.2:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3748G>A
hgvsp: ENSP00000425153.1:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3748G>A
hgvsp: ENSP00000392390.4:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3748G>A
hgvsp: ENSP00000422268.1:p.Glu1250Lys
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18700
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10030
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4569
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2353
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21740
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.713648e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3687C>T
hgvsp: ENST00000352832.5:c.3687C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3756C>T
hgvsp: ENST00000359106.5:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3687C>T
hgvsp: ENST00000511768.1:c.3687C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3756C>T
hgvsp: ENST00000505165.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3756C>T
hgvsp: ENST00000416767.4:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3756C>T
hgvsp: ENST00000511765.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3756C>T
hgvsp: ENST00000506406.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3687C>T
hgvsp: ENST00000514717.1:c.3687C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.201C>T
hgvsp: ENST00000506520.1:c.201C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3756C>T
hgvsp: ENST00000429973.2:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3756C>T
hgvsp: ENST00000507609.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3756C>T
hgvsp: ENST00000512389.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3687C>T
hgvsp: ENST00000510115.1:c.3687C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3756C>T
hgvsp: ENST00000515411.1:c.3756C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 21690
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10042
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4567
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18695
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31210
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.543e0

DP
type: SiteQuality
SIO_000300: 1.712967e6

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 1.4852e1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3694T>G
hgvsp: ENSP00000427173.1:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3763T>G
hgvsp: ENSP00000427238.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3763T>G
hgvsp: ENSP00000426261.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3694T>G
hgvsp: ENSP00000425522.1:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3763T>G
hgvsp: ENSP00000423045.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3763T>G
hgvsp: ENSP00000422268.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3694T>G
hgvsp: ENSP00000353990.4:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3763T>G
hgvsp: ENSP00000426814.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3763T>G
hgvsp: ENSP00000421518.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3694T>G
hgvsp: ENSP00000427231.1:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3763T>G
hgvsp: ENSP00000414388.2:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3694T>G
hgvsp: ENSP00000424664.1:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3694T>G
hgvsp: ENSP00000426558.1:p.Ser1232Ala
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3763T>G
hgvsp: ENSP00000423155.1:p.Ser1255Ala
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10045
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21657
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18665
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -5.984e-1

FS
type: SiteQuality
SIO_000300: 4.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.71235e6

QD
type: SiteQuality
SIO_000300: 1.112e1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3722G>A
hgvsp: ENSP00000422407.1:p.Arg1241Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3722G>A
hgvsp: ENSP00000409759.2:p.Arg1241Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3722G>A
hgvsp: ENSP00000425522.1:p.Arg1241Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791G>A
hgvsp: ENSP00000426261.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791G>A
hgvsp: ENSP00000425451.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791G>A
hgvsp: ENSP00000426814.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791G>A
hgvsp: ENSP00000414388.2:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791G>A
hgvsp: ENSP00000392390.4:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791G>A
hgvsp: ENSP00000423045.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791G>A
hgvsp: ENSP00000423317.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791G>A
hgvsp: ENSP00000421518.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722G>A
hgvsp: ENSP00000426558.1:p.Arg1241Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3791G>A
hgvsp: ENSP00000426232.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722G>A
hgvsp: ENSP00000424664.1:p.Arg1241Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791G>A
hgvsp: ENSP00000426313.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791G>A
hgvsp: ENSP00000423155.1:p.Arg1264Lys
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 459
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21247
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18670
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10019
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 5.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.934e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.707972e6

FS
type: SiteQuality
SIO_000300: 8.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3722+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+4A>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21058
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10007
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30523
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.7055e6

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 4.066e0

QD
type: SiteQuality
SIO_000300: 1.774e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3722+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3722+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+5G>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2356
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18596
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9999
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20989
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.686e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

DP
type: SiteQuality
SIO_000300: 1.704567e6

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3722+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3722+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+13G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3722+13G>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 308
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9980
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1115
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20261
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18357
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.083e1

FS
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

DP
type: SiteQuality
SIO_000300: 1.695533e6

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3722+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3791+14C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 18368
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 801
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20262
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9964
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 1.695444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

VQSLOD
type: SiteQuality
SIO_000300: -1.511e-1

FS
type: SiteQuality
SIO_000300: 5.586e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3722+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791+26C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2353
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18163
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2098
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4556
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9785
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2742
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17655
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1137
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5584
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024711896191888e-5
allele num: 66122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.670518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 5.997e0

QD
type: SiteQuality
SIO_000300: 1.475e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3722+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3722+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+29T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3722+29T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2324
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17507
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3735
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17193
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9678
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 1.659589e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.733e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3722+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.236+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.3722+32C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+32C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 9551
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2385
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16853
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4345
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4535
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2349
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5582
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 1.6527e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.479e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

MQ
type: SiteQuality
SIO_000300: 5.905e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.3722+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+34C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16938
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 388
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16635
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2431
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2367
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 9470
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 4910
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5598
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.506501397496658e-4
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.101941747572816e-5
allele num: 65920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.092145949288807e-4
allele num: 9702
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 1.648466e6

FS
type: SiteQuality
SIO_000300: 2.453e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.364e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.236+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3722+35G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+35G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16566
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 4535
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 2455
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5191
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1139
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16789
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 621
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9385
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5603
bin: 9.75e1
variant carriers: 28

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.397937518956627e-4
allele num: 65940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.4e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.645404e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3722+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+38C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2460
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9216
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6199
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5581
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 1.633864e6

QD
type: SiteQuality
SIO_000300: 1.381e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.3722+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+48C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14963
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8815
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6164
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1135
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2437
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4512
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17889
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523182842868458e-5
allele num: 65652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 9.148999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.624204e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.3722+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.3722+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3722+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+50C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+50C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2451
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2361
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6109
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17512
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15268
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4518
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.627531e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.3722+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.3722+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3722+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3791+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.3722+50C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.3722+50C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2451
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 124
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4518
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8912
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17512
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 204
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15268
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2361
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6109
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 196
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5603
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.25e1
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: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.633426966292135e-4
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.202781844802343e-4
allele num: 65568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 1.627531e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.3723-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427697
ensembl transcript: ENST00000506520
gene symbol: CACNA1G
hgvsc: ENST00000506520.1:c.237-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.3723-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000392390
ensembl transcript: ENST00000416767
gene symbol: CACNA1G
hgvsc: ENST00000416767.4:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.3792-50G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 226
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23759
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1464
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6616
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5413
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2185
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2751
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 714
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 4.631e0

DP
type: SiteQuality
SIO_000300: 1.793529e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.908e0