5-180670410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670410
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670410
    reference: chr 5
allele count: 1
allele frequency: 1.292757969852884e-5
allele num: 77354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+270C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-5C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-5C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1065C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+270C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-5C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+282C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1065C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+282C>G
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.110-5C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

5-180670411-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670411
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670408
    reference: chr 5
allele count: 2
allele frequency: 2.578781783485482e-5
allele num: 77556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1069_-14-1067delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+278_223+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1069_254-1067delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+278_212+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+266_225+268delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+278_181+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+278_256+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+278_211+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-9_214-7delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+278_109+280delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+266_*1+268delCCT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-9_218-7delCCT
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.110-9_110-7delCCT
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: AAGG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-180670413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670413
    reference: chr 5
allele count: 25
allele frequency: 3.332178178231546e-4
allele num: 75026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1068C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1068C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-8C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-8C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+267C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+279C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+279C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.110-8C>T
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

5-180670414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670414
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670414
    reference: chr 5
allele count: 1004
allele frequency: 1.362168615852169e-2
allele num: 73706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-9C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-9C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1069C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1069C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+278C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 7
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

5-180670419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670419
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670419
    reference: chr 5
allele count: 1
allele frequency: 1.486590949634299e-5
allele num: 67268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-14C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1074C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+261C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-14C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+261C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+273C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-14C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-180670420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670420
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670420
    reference: chr 5
allele count: 3
allele frequency: 4.551937608108518e-5
allele num: 65906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1075C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1075C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-15C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+260C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-15C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+272C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-15C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+272C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-180670421-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670420
    reference: chr 5
allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1077delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-17delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+258delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1077delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-17delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-17delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+270delT
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+258delT
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CA
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-180670426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670426
    reference: chr 5
allele count: 2
allele frequency: 3.399972800217598e-5
allele num: 58824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-21C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1081C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+266C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-21C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+254C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1081C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+266C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-180670426-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670426
    reference: chr 5
allele count: 2
allele frequency: 3.399972800217598e-5
allele num: 58824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+254C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1081C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+254C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+266C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-21C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+266C>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-180670427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670427
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670427
    reference: chr 5
allele count: 2
allele frequency: 3.534193320374625e-5
allele num: 56590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+253T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1082T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-22T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-22T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+253T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+265T>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-180670431-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670431
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670431
    reference: chr 5
allele count: 1
allele frequency: 1.984441974916653e-5
allele num: 50392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1086A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1086A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+249A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-26A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-26A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-26A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+261A>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-180670433-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670433
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670433
    reference: chr 5
allele count: 8284
allele frequency: 1.674753355976063e-1
allele num: 49464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1088A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-28A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+247A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+247A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-28A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+259A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1088A>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 736
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

5-180670434-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670434
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670434
    reference: chr 5
allele count: 1
allele frequency: 2.523850386149109e-5
allele num: 39622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-29T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1089T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+246T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+246T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-29T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1089T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-29T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+258T>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+258T>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-180670435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670435
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 39906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1090T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1090T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+245T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-30T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-30T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+245T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+257T>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-180670443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670443
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 24914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-38G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-38G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1098G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+249G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1098G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+249G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

5-180670454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670454
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670454
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 17506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1109G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+226G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-49G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-49G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+226G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+238G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+238G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/5-180670455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670455
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670455
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 17168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-50G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.218-50G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1110G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+225G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1110G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+225G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+237G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.214-50G>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-180670455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670455
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670455
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 17168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+225G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1110G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+225G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+237G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.110-50G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+237G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-180670651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670651
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670651
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 21948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1306C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1306C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.213+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+41C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+29C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+41C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-180670652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670652
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670652
    reference: chr 5
allele count: 8
allele frequency: 3.644314868804665e-4
allele num: 21952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+28G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.213+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+28G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+40G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1307G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+40G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-180670665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670665
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670665
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 24498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+15C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1320C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.213+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+27C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+27C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-180670676-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670676
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670676
    reference: chr 5
allele count: 1
allele frequency: 3.52410487736115e-5
allele num: 28376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1331G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.*1+4G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.225+4G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1331G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+16G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+16G>C
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.225+4G>C
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-180670682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670682
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670682
    reference: chr 5
allele count: 1
allele frequency: 3.13302838523717e-5
allele num: 31918
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1337A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.213+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.223A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+10A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.119A>G
  hgvsp: ENST00000511473.1:c.119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1337A>G
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.223A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-180670683-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670683
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670684
    reference: chr 5
allele count: 1
allele frequency: 3.082044011588486e-5
allele num: 32446
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.221dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.212+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.117dupC
  hgvsp: ENSP00000420936.1:p.Ter40LeufsTer3
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.213+8dupC
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+8dupC
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter40LeufsTer3
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-180670686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670686
    reference: chr 5
allele count: 1
allele frequency: 2.894858730893932e-5
allele num: 34544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.115G>A
  hgvsp: ENSP00000420936.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+6G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp39Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

5-180670688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670688
    reference: chr 5
allele count: 1
allele frequency: 2.744387727098084e-5
allele num: 36438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.223+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.217C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.113C>T
  hgvsp: ENSP00000420936.1:p.Thr38Met
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1343C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.256+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.217+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.211+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.51+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.109+4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.181+4C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr38Met
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-180670695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670695
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670695
    reference: chr 5
allele count: 2
allele frequency: 4.524886877828054e-5
allele num: 44200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.210C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.106C>A
  hgvsp: ENST00000508682.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.253C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.106C>A
  hgvsp: ENST00000511473.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.210C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.220C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.106C>A
  hgvsp: ENST00000504726.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.48C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.106C>A
  hgvsp: ENST00000456394.2:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.106C>A
  hgvsp: ENST00000512805.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.106C>A
  hgvsp: ENST00000511900.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.214C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.106C>A
  hgvsp: ENST00000376817.4:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.106C>A
  hgvsp: ENST00000504325.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.106C>A
  hgvsp: ENST00000512968.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.106C>A
  hgvsp: ENST00000511566.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.208C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.106C>A
  hgvsp: ENST00000503081.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.106C>A
  hgvsp: ENST00000506312.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg36Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

5-180670705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670705
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670705
    reference: chr 5
allele count: 49
allele frequency: 9.0056974820805e-4
allele num: 54410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.96C>T
  hgvsp: ENST00000504726.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.96C>T
  hgvsp: ENST00000456394.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1360C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.200C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.96C>T
  hgvsp: ENST00000508682.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.96C>T
  hgvsp: ENST00000376817.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.210C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.96C>T
  hgvsp: ENST00000512805.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.96C>T
  hgvsp: ENST00000511566.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.96C>T
  hgvsp: ENST00000503494.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.204C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.96C>T
  hgvsp: ENST00000511473.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.96C>T
  hgvsp: ENST00000503081.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.200C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.198C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.96C>T
  hgvsp: ENST00000512968.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.96C>T
  hgvsp: ENST00000504325.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.96C>T
  hgvsp: ENST00000513027.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.243C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu32Leu
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-180670708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670708
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670708
    reference: chr 5
allele count: 1
allele frequency: 1.768659356207994e-5
allele num: 56540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.93C>T
  hgvsp: ENST00000512968.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.93C>T
  hgvsp: ENST00000511900.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.93C>T
  hgvsp: ENST00000456394.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.93C>T
  hgvsp: ENST00000503081.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.196C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1363C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.93C>T
  hgvsp: ENST00000508682.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.93C>T
  hgvsp: ENST00000376817.4:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.93C>T
  hgvsp: ENST00000511473.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.93C>T
  hgvsp: ENST00000513027.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.93C>T
  hgvsp: ENST00000511566.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.93C>T
  hgvsp: ENST00000504325.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.165C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.195C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.207C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.93C>T
  hgvsp: ENST00000503494.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.93C>T
  hgvsp: ENST00000512805.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.93C>T
  hgvsp: ENST00000504726.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.93C>T
  hgvsp: ENST00000506312.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile31Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-180670717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670717
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670717
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 61796
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.84G>A
  hgvsp: ENST00000512805.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.84G>A
  hgvsp: ENST00000503081.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.84G>A
  hgvsp: ENST00000504325.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.84G>A
  hgvsp: ENST00000512968.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.84G>A
  hgvsp: ENST00000511900.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.84G>A
  hgvsp: ENST00000508682.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.84G>A
  hgvsp: ENST00000513027.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.187G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.84G>A
  hgvsp: ENST00000456394.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.84G>A
  hgvsp: ENST00000376817.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.198G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.188G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.156G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.84G>A
  hgvsp: ENST00000511473.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.84G>A
  hgvsp: ENST00000511566.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.192G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1372G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.84G>A
  hgvsp: ENST00000503494.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.188G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro28Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-180670720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670720
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670720
    reference: chr 5
allele count: 2
allele frequency: 3.146039136726861e-5
allele num: 63572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.81C>T
  hgvsp: ENST00000504726.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.81C>T
  hgvsp: ENST00000456394.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.81C>T
  hgvsp: ENST00000508682.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.81C>T
  hgvsp: ENST00000376817.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.81C>T
  hgvsp: ENST00000503081.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.81C>T
  hgvsp: ENST00000503494.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1375C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.189C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.81C>T
  hgvsp: ENST00000511900.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.81C>T
  hgvsp: ENST00000513027.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.185C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.81C>T
  hgvsp: ENST00000506312.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.81C>T
  hgvsp: ENST00000511566.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.23C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.81C>T
  hgvsp: ENST00000504325.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.81C>T
  hgvsp: ENST00000511473.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.184C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.81C>T
  hgvsp: ENST00000512805.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1375C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe27Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-180670729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670729
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670729
    reference: chr 5
allele count: 1
allele frequency: 1.46472931802203e-5
allele num: 68272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.72C>T
  hgvsp: ENST00000512968.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.72C>T
  hgvsp: ENST00000503081.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.72C>T
  hgvsp: ENST00000508682.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.186C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.174C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.72C>T
  hgvsp: ENST00000504726.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.72C>T
  hgvsp: ENST00000376817.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.72C>T
  hgvsp: ENST00000456394.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.14C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.180C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.72C>T
  hgvsp: ENST00000506312.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.72C>T
  hgvsp: ENST00000512805.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.176C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.72C>T
  hgvsp: ENST00000503494.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.72C>T
  hgvsp: ENST00000513027.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.72C>T
  hgvsp: ENST00000511473.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.175C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.176C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1384C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr24Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

5-180670734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670734
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670734
    reference: chr 5
allele count: 1
allele frequency: 1.423974026713753e-5
allele num: 70226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.170A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.67A>G
  hgvsp: ENSP00000422768.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.181A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.169A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.67A>G
  hgvsp: ENSP00000426909.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.67A>G
  hgvsp: ENSP00000426046.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.67A>G
  hgvsp: ENSP00000425008.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.67A>G
  hgvsp: ENSP00000426270.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.67A>G
  hgvsp: ENSP00000366013.4:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.67A>G
  hgvsp: ENSP00000421356.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.175A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.67A>G
  hgvsp: ENSP00000426111.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514183
  gene symbol: GNB2L1
  hgvsc: ENST00000514183.1:n.9A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.67A>G
  hgvsp: ENSP00000424237.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.67A>G
  hgvsp: ENSP00000394470.2:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.67A>G
  hgvsp: ENSP00000426101.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.214A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.139A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.171A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.67A>G
  hgvsp: ENSP00000420936.1:p.Thr23Ala
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr23Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

5-180670737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670737
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670737
    reference: chr 5
allele count: 7
allele frequency: 9.89203549827596e-5
allele num: 70764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.178G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.166G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.64G>A
  hgvsp: ENSP00000424237.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.168G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.64G>A
  hgvsp: ENSP00000366013.4:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.64G>A
  hgvsp: ENSP00000426909.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.64G>A
  hgvsp: ENSP00000424760.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.64G>A
  hgvsp: ENSP00000426111.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1392G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.64G>A
  hgvsp: ENSP00000394470.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.64G>A
  hgvsp: ENSP00000426101.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.64G>A
  hgvsp: ENSP00000420936.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.64G>A
  hgvsp: ENSP00000422768.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.64G>A
  hgvsp: ENSP00000422198.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.64G>A
  hgvsp: ENSP00000426046.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.64G>A
  hgvsp: ENSP00000421356.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.211G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.172G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.64G>A
  hgvsp: ENSP00000425008.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala22Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-180670748-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670748
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670748
    reference: chr 5
allele count: 4
allele frequency: 5.669737774627923e-5
allele num: 70550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.53T>G
  hgvsp: ENSP00000426101.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.53T>G
  hgvsp: ENSP00000424237.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.157T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.125T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.53T>G
  hgvsp: ENSP00000422198.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.53T>G
  hgvsp: ENSP00000426111.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.53T>G
  hgvsp: ENSP00000426270.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.53T>G
  hgvsp: ENSP00000424760.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1403T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.53T>G
  hgvsp: ENSP00000426909.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.53T>G
  hgvsp: ENSP00000421356.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.53T>G
  hgvsp: ENSP00000420936.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.53T>G
  hgvsp: ENSP00000394470.2:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.167T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.53T>G
  hgvsp: ENSP00000425008.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.53T>G
  hgvsp: ENSP00000366013.4:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.200T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.156T>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.53T>G
  hgvsp: ENSP00000422768.1:p.Val18Gly
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val18Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-180670748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670748
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670748
    reference: chr 5
allele count: 1
allele frequency: 1.417434443656981e-5
allele num: 70550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.53T>C
  hgvsp: ENSP00000424760.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.53T>C
  hgvsp: ENSP00000425008.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.53T>C
  hgvsp: ENSP00000426111.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.53T>C
  hgvsp: ENSP00000422768.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.53T>C
  hgvsp: ENSP00000421356.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.157T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.53T>C
  hgvsp: ENSP00000422198.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1403T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.53T>C
  hgvsp: ENSP00000424237.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.125T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.53T>C
  hgvsp: ENSP00000426270.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.53T>C
  hgvsp: ENSP00000426909.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.157T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.53T>C
  hgvsp: ENSP00000366013.4:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.53T>C
  hgvsp: ENSP00000394470.2:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.167T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.200T>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.53T>C
  hgvsp: ENSP00000426046.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.155T>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val18Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-180670753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670753
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670753
    reference: chr 5
allele count: 1
allele frequency: 1.393378664585888e-5
allele num: 71768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.48C>T
  hgvsp: ENST00000456394.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.48C>T
  hgvsp: ENST00000512805.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.120C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.152C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.150C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.48C>T
  hgvsp: ENST00000504726.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.48C>T
  hgvsp: ENST00000511473.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.48C>T
  hgvsp: ENST00000376817.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.151C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.195C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.48C>T
  hgvsp: ENST00000503494.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.48C>T
  hgvsp: ENST00000504325.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.48C>T
  hgvsp: ENST00000503081.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.48C>T
  hgvsp: ENST00000508682.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.48C>T
  hgvsp: ENST00000506312.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.48C>T
  hgvsp: ENST00000513027.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.152C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1408C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.162C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly16Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

5-180670768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670768
    reference: chr 5
allele count: 4
allele frequency: 5.742341152487869e-5
allele num: 69658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.141C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.33C>T
  hgvsp: ENST00000376817.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.137C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.180C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.147C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.33C>T
  hgvsp: ENST00000511473.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.33C>T
  hgvsp: ENST00000513027.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.33C>T
  hgvsp: ENST00000512968.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.33C>T
  hgvsp: ENST00000508682.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.33C>T
  hgvsp: ENST00000504726.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.33C>T
  hgvsp: ENST00000511900.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.33C>T
  hgvsp: ENST00000504325.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.136C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.33C>T
  hgvsp: ENST00000503494.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.33C>T
  hgvsp: ENST00000503081.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.33C>T
  hgvsp: ENST00000512805.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1423C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.105C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.33C>T
  hgvsp: ENST00000506312.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu11Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

5-180670783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670783
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670783
    reference: chr 5
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.18C>T
  hgvsp: ENST00000376817.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.18C>T
  hgvsp: ENST00000511566.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.18C>T
  hgvsp: ENST00000512968.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.18C>T
  hgvsp: ENST00000503081.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.18C>T
  hgvsp: ENST00000513027.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.18C>T
  hgvsp: ENST00000456394.2:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.122C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.18C>T
  hgvsp: ENST00000511473.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.18C>T
  hgvsp: ENST00000504325.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.18C>T
  hgvsp: ENST00000508682.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.18C>T
  hgvsp: ENST00000503494.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.18C>T
  hgvsp: ENST00000512805.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.121C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.132C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.122C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.18C>T
  hgvsp: ENST00000506312.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1438C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.18C>T
  hgvsp: ENST00000511900.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.165C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr6Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-180670789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670789
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670789
    reference: chr 5
allele count: 18
allele frequency: 2.768378960319901e-4
allele num: 65020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.12G>A
  hgvsp: ENST00000503081.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.12G>A
  hgvsp: ENST00000511566.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.12G>A
  hgvsp: ENST00000508682.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.12G>A
  hgvsp: ENST00000512805.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.12G>A
  hgvsp: ENST00000504726.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1444G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1444G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.12G>A
  hgvsp: ENST00000506312.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.126G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.12G>A
  hgvsp: ENST00000456394.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.120G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.12G>A
  hgvsp: ENST00000513027.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.12G>A
  hgvsp: ENST00000511900.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.115G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.12G>A
  hgvsp: ENST00000503494.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.12G>A
  hgvsp: ENST00000376817.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.12G>A
  hgvsp: ENST00000511473.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.12G>A
  hgvsp: ENST00000504325.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.114G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln4Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-180670792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670792
    reference: chr 5
allele count: 53
allele frequency: 8.28254414752305e-4
allele num: 63990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.113G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.113G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1447G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1447G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.9G>A
  hgvsp: ENST00000511566.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.9G>A
  hgvsp: ENST00000513027.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.9G>A
  hgvsp: ENST00000506312.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.9G>A
  hgvsp: ENST00000376817.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.9G>A
  hgvsp: ENST00000503494.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.9G>A
  hgvsp: ENST00000504726.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.9G>A
  hgvsp: ENST00000456394.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.9G>A
  hgvsp: ENST00000508682.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.123G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.9G>A
  hgvsp: ENST00000503081.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.117G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.112G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.9G>A
  hgvsp: ENST00000512968.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.9G>A
  hgvsp: ENST00000512805.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.156G>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.81G>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu3Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-180670804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670804
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670804
    reference: chr 5
allele count: 1
allele frequency: 1.705553281484514e-5
allele num: 58632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.105C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1459C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.144C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.100C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.101C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.111C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.99C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.101C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

5-180670807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670807
    reference: chr 5
allele count: 2
allele frequency: 3.481409274474307e-5
allele num: 57448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.66C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.96C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1462C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.97C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.98C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.141C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.102C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.108C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-180670810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670810
    reference: chr 5
allele count: 1
allele frequency: 1.792243171553516e-5
allele num: 55796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.138C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.95C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.94C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1465C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.95C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.63C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.99C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.105C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-180670814-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670814
    reference: chr 5
allele count: 1
allele frequency: 1.830965284898198e-5
allele num: 54616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.91C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.95C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.91C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.59C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.101C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1469C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.89C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.134C>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

5-180670816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670816
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670816
    reference: chr 5
allele count: 1
allele frequency: 1.877722697911972e-5
allele num: 53256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.99C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1471C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.132C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.93C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.89C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.89C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1471C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.57C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.88C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

5-180670818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670818
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 53078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1473C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.86C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.87C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.85C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.130C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1473C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.87C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.55C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.97C>G
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-180670821-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670821
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670821
    reference: chr 5
allele count: 1
allele frequency: 1.93700848409716e-5
allele num: 51626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.94A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.83A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1476A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1476A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.84A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-21A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.84A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.88A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.82A>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.127A>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

5-180670824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670824
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670824
    reference: chr 5
allele count: 2
allele frequency: 4.037467700258398e-5
allele num: 49536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.85G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.81G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.81G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.124G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.91G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1479G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.79G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.80G>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.49G>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-180670825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670825
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670825
    reference: chr 5
allele count: 1
allele frequency: 2.043151356652501e-5
allele num: 48944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.79A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.123A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.90A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.80A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.78A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1480A>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1480A>G
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-180670830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670830
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670830
    reference: chr 5
allele count: 1
allele frequency: 2.183692186749356e-5
allele num: 45794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.43G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1485G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-30G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.75G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1485G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.118G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.73G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.85G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.75G>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.79G>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-180670834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670834
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670834
    reference: chr 5
allele count: 3
allele frequency: 6.887052341597796e-5
allele num: 43560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.71C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.71C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.39C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.75C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.81C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.114C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1489C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

5-180670841-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670841
    reference: chr 5
allele count: 1
allele frequency: 2.748158733648456e-5
allele num: 36388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.32C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1496C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.64C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1496C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.64C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.107C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.74C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.68C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-41C>G
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-180670841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670841
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 36388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.62C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.68C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1496C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.64C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.63C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.107C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.64C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.32C>A
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-41C>A
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

5-180670845-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670845
    reference: chr 5
allele count: 1
allele frequency: 2.847218267752406e-5
allele num: 35122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.60A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1500A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.28A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.59A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.70A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.64A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.58A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426046
  ensembl transcript: ENST00000504726
  gene symbol: GNB2L1
  hgvsc: ENST00000504726.1:c.-45A>C
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1500A>C
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-180670846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670846
    reference: chr 5
allele count: 2
allele frequency: 5.942476824340385e-5
allele num: 33656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421416
  ensembl transcript: ENST00000507000
  gene symbol: GNB2L1
  hgvsc: ENST00000507000.1:c.-14-1501C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000502548
  gene symbol: GNB2L1
  hgvsc: ENST00000502548.1:n.59C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.57C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.59C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1501C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.69C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.63C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.102C>T
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.58C>T
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-180670851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180670851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180670851
    reference: chr 5
allele count: 285
allele frequency: 8.935289691497367e-3
allele num: 31896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000507261
  gene symbol: GNB2L1
  hgvsc: ENST00000507261.1:n.52C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426101
  ensembl transcript: ENST00000511566
  gene symbol: GNB2L1
  hgvsc: ENST00000511566.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426111
  ensembl transcript: ENST00000503494
  gene symbol: GNB2L1
  hgvsc: ENST00000503494.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000366013
  ensembl transcript: ENST00000376817
  gene symbol: GNB2L1
  hgvsc: ENST00000376817.4:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000515417
  gene symbol: GNB2L1
  hgvsc: ENST00000515417.1:n.22C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000421356
  ensembl transcript: ENST00000513027
  gene symbol: GNB2L1
  hgvsc: ENST00000513027.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422198
  ensembl transcript: ENST00000504325
  gene symbol: GNB2L1
  hgvsc: ENST00000504325.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000503170
  gene symbol: GNB2L1
  hgvsc: ENST00000503170.1:n.54C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000508963
  gene symbol: GNB2L1
  hgvsc: ENST00000508963.1:n.53C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424237
  ensembl transcript: ENST00000503081
  gene symbol: GNB2L1
  hgvsc: ENST00000503081.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000424760
  ensembl transcript: ENST00000508682
  gene symbol: GNB2L1
  hgvsc: ENST00000508682.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426909
  ensembl transcript: ENST00000512805
  gene symbol: GNB2L1
  hgvsc: ENST00000512805.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000394470
  ensembl transcript: ENST00000456394
  gene symbol: GNB2L1
  hgvsc: ENST00000456394.2:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000505461
  gene symbol: GNB2L1
  hgvsc: ENST00000505461.1:n.64C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000513060
  gene symbol: GNB2L1
  hgvsc: ENST00000513060.1:n.97C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204628
  ensembl transcript: ENST00000514318
  gene symbol: GNB2L1
  hgvsc: ENST00000514318.1:n.58C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000420936
  ensembl transcript: ENST00000511473
  gene symbol: GNB2L1
  hgvsc: ENST00000511473.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000426270
  ensembl transcript: ENST00000506312
  gene symbol: GNB2L1
  hgvsc: ENST00000506312.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000422768
  ensembl transcript: ENST00000511900
  gene symbol: GNB2L1
  hgvsc: ENST00000511900.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000423569
  ensembl transcript: ENST00000510199
  gene symbol: GNB2L1
  hgvsc: ENST00000510199.1:c.254-1506C>G
  variant of: http://identifiers.org/hgnc/4399
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204628
  ensembl protein: ENSP00000425008
  ensembl transcript: ENST00000512968
  gene symbol: GNB2L1
  hgvsc: ENST00000512968.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/4399
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 10
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-180674123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 180674123
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 180674123
    reference: chr 5
allele count: 3
allele frequency: 1.230516817063167e-3
allele num: 2438
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000233937
  ensembl transcript: ENST00000511331
  gene symbol: CTC-338M12.4
  hgvsc: ENST00000511331.1:n.368C>G
canonical: false
consequence: splice donor
filter: PASS
hgvs: c.253+1G>C
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424237
ensembl transcript: ENST00000503081
gene symbol: GNB2L1
hgvsc: ENST00000503081.1:c.109+282C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+282C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426909
ensembl transcript: ENST00000512805
gene symbol: GNB2L1
hgvsc: ENST00000512805.1:c.109+282C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424760
ensembl transcript: ENST00000508682
gene symbol: GNB2L1
hgvsc: ENST00000508682.1:c.109+282C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+282C>G
variant of: http://identifiers.org/hgnc/4399

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

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

GenotypeDepth
all individuals: 4891
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3906
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23781
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14935
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4155
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.387888628874349e-5
allele num: 41878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 7.65424e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 3.424e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+278_109+280delCCT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.109+278_109+280delCCT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.109+278_109+280delCCT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+278_51+280delCCT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421356
ensembl transcript: ENST00000513027
gene symbol: GNB2L1
hgvsc: ENST00000513027.1:c.110-9_110-7delCCT
variant of: http://identifiers.org/hgnc/4399

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1481
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4847
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4918
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3804
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4214
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 23808
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15055
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4378
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33618
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.762358319839985e-5
allele num: 41996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 7.64012e5

MQ
type: SiteQuality
SIO_000300: 5.826e1

FS
type: SiteQuality
SIO_000300: 8.31e0

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-8C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+279C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426909
ensembl transcript: ENST00000512805
gene symbol: GNB2L1
hgvsc: ENST00000512805.1:c.109+279C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.223+279C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.*1+267C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4790
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24385
bin: 1.25e1
variant carriers: 9

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

GenotypeDepth
all individuals: 4140
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15662
bin: 7.5e0
variant carriers: 3

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

GenotypeDepth
all individuals: 3895
bin: 2.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4064
bin: 1.75e1
variant carriers: 12

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

GenotypeDepth
all individuals: 1275
bin: 3.25e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 322
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34042
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12276
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 4.756468797564688e-3
allele num: 5256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.31735e5

FS
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+278C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.*1+266C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-9C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+278C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 3475
bin: 2.25e1
variant carriers: 245

GenotypeDepth
all individuals: 9
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 15986
bin: 7.5e0
variant carriers: 79

GenotypeDepth
all individuals: 3755
bin: 2.75e1
variant carriers: 114

GenotypeDepth
all individuals: 181
bin: 3.75e1
variant carriers: 13

GenotypeDepth
all individuals: 4171
bin: 1.75e1
variant carriers: 320

GenotypeDepth
all individuals: 5132
bin: 2.5e0
variant carriers: 6

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

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 24520
bin: 1.25e1
variant carriers: 243

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

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1178
bin: 3.25e1
variant carriers: 52

GenotypeQuality
all individuals: 390
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3599
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2803
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34012
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 856
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 724
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5451
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1186
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 783
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 121
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 996
bin: 9.75e1
variant carriers: 979

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 3

Other
type: Population
allele count: 6
allele frequency: 1.067615658362989e-2
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 3.076923076923077e-3
allele num: 5200
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.223684210526315e-4
allele num: 12160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 9.211283822682787e-3
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 60
allele frequency: 8.185538881309686e-3
allele num: 7330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 880
allele frequency: 2.207727044656297e-2
allele num: 39860
num of homozygotes: 7

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 7.15798e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.109+273C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+273C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1074C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+273C>T
variant of: http://identifiers.org/hgnc/4399

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

GenotypeDepth
all individuals: 2218
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2581
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 6768
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3993
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17744
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24568
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7471
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.768395991362605e-5
allele num: 36122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -6.308e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 4.771e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

DP
type: SiteQuality
SIO_000300: 6.49e5

QD
type: SiteQuality
SIO_000300: 7.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+272C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.225+260C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+272C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.109+272C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2372
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17995
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7098
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 24426
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 3988
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2073
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7900
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 6.462731581214993e-4
allele num: 4642
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.39327e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+270delT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+270delT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+270delT
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.256+270delT
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 563
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7422
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1938
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18216
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24299
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2199
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33945
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8307
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.889505316689783e-5
allele num: 34608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.86e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 6.30085e5

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.95e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421356
ensembl transcript: ENST00000513027
gene symbol: GNB2L1
hgvsc: ENST00000513027.1:c.110-21C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.256+266C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.*1+254C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+266C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1598
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1374
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22721
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19448
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3781
bin: 1.75e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.195296523517383e-5
allele num: 31296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.405568096313017e-5
allele num: 10632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -9.303e-1

DP
type: SiteQuality
SIO_000300: 5.85266e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-21C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+266C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421356
ensembl transcript: ENST00000513027
gene symbol: GNB2L1
hgvsc: ENST00000513027.1:c.110-21C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1081C>A
variant of: http://identifiers.org/hgnc/4399

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

GenotypeDepth
all individuals: 9405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 19448
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3781
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1598
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1374
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22721
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2060
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.390593047034765e-5
allele num: 31296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 5.85266e5

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -9.303e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+265T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1082T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.211+265T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-22T>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3798
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19641
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 10225
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22115
bin: 1.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1429
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11576
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.521432173474534e-4
allele num: 3966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.326901324106727e-5
allele num: 30058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.141e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 5.70054e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.109+261A>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.225+249A>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+261A>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+261A>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 3713
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20132
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12093
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20434
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4037
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13681
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.763076691502973e-5
allele num: 26574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.38631e5

QD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+259A>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-28A>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424760
ensembl transcript: ENST00000508682
gene symbol: GNB2L1
hgvsc: ENST00000508682.1:c.109+259A>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.109+259A>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 8
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 3664
bin: 1.75e1
variant carriers: 2070

GenotypeDepth
all individuals: 48
bin: 3.75e1
variant carriers: 26

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 19990
bin: 1.25e1
variant carriers: 4509

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

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 221
bin: 3.25e1
variant carriers: 79

GenotypeDepth
all individuals: 20439
bin: 7.5e0
variant carriers: 3804

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12090
bin: 2.5e0
variant carriers: 288

GenotypeDepth
all individuals: 644
bin: 2.75e1
variant carriers: 201

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1075
bin: 2.25e1
variant carriers: 722

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

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

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

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

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

GenotypeQuality
all individuals: 817
bin: 6.25e1
variant carriers: 128

GenotypeQuality
all individuals: 22773
bin: 2.25e1
variant carriers: 361

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 343

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 295

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 386

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 238

GenotypeQuality
all individuals: 2507
bin: 1.25e1
variant carriers: 169

GenotypeQuality
all individuals: 12870
bin: 7.5e0
variant carriers: 143

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 291

GenotypeQuality
all individuals: 227
bin: 6.75e1
variant carriers: 129

GenotypeQuality
all individuals: 1812
bin: 1.75e1
variant carriers: 335

GenotypeQuality
all individuals: 233
bin: 7.25e1
variant carriers: 213

GenotypeQuality
all individuals: 304
bin: 7.75e1
variant carriers: 288

GenotypeQuality
all individuals: 2251
bin: 2.5e0
variant carriers: 34

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 251

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 210

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 197

GenotypeQuality
all individuals: 2431
bin: 2.75e1
variant carriers: 177

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 379

GenotypeQuality
all individuals: 7152
bin: 9.75e1
variant carriers: 7148

Latino
type: Population
allele count: 804
allele frequency: 1.7201540436457e-1
allele num: 4674
num of homozygotes: 52

Other
type: Population
allele count: 58
allele frequency: 1.550802139037433e-1
allele num: 374
num of homozygotes: 4

South Asian
type: Population
allele count: 1832
allele frequency: 1.89648033126294e-1
allele num: 9660
num of homozygotes: 155

East Asian
type: Population
allele count: 1061
allele frequency: 3.613760217983651e-1
allele num: 2936
num of homozygotes: 145

European (Non-Finnish)
type: Population
allele count: 2684
allele frequency: 1.040874893352982e-1
allele num: 25786
num of homozygotes: 105

African
type: Population
allele count: 1525
allele frequency: 4.106085083467959e-1
allele num: 3714
num of homozygotes: 260

European (Finnish)
type: Population
allele count: 320
allele frequency: 1.379310344827586e-1
allele num: 2320
num of homozygotes: 15

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

DP
type: SiteQuality
SIO_000300: 5.29179e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.871e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+258T>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+258T>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.223+258T>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+258T>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1974
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16563
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17655
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 359
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21297
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.738887309259786e-5
allele num: 21102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -3.195e0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 4.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.60961e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.286e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+257T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+257T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+257T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421356
ensembl transcript: ENST00000513027
gene symbol: GNB2L1
hgvsc: ENST00000513027.1:c.110-30T>C
variant of: http://identifiers.org/hgnc/4399

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

GenotypeDepth
all individuals: 16628
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21365
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 361
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1963
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17582
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2821
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18380
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -3.128e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 4.17e0

DP
type: SiteQuality
SIO_000300: 4.605e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424237
ensembl transcript: ENST00000503081
gene symbol: GNB2L1
hgvsc: ENST00000503081.1:c.109+249G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.109+249G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.*1+237G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.214-38G>A
variant of: http://identifiers.org/hgnc/4399

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

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

GenotypeDepth
all individuals: 11029
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26189
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18800
bin: 2.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1592
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5845
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20846
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.712e1

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 3.9512e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.373e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1109G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-49G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+238G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.256+238G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 19485
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7792
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1259
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 29029
bin: 7.5e0
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 1791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19796
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10915
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8699
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.525e0

DP
type: SiteQuality
SIO_000300: 3.76972e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+237G>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.212+237G>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.109+237G>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426111
ensembl transcript: ENST00000503494
gene symbol: GNB2L1
hgvsc: ENST00000503494.1:c.109+237G>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 467
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29049
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19470
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1244
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7822
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10835
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10067
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.77697e5

QD
type: SiteQuality
SIO_000300: 5.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.214-50G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1110G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.218-50G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.109+237G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 7822
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1244
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29049
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 19470
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 467
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10835
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10067
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 3.77697e5

QD
type: SiteQuality
SIO_000300: 5.17e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+41C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.212+41C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.*1+29C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.223+41C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 2431
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19549
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 28526
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24051
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13783
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

DP
type: SiteQuality
SIO_000300: 5.96979e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

QD
type: SiteQuality
SIO_000300: 1.133e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+40G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1307G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.212+40G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.217+40G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1091
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2476
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 555
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2398
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28050
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20049
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5044
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.10041265474553e-3
allele num: 7270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.518e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

VQSLOD
type: SiteQuality
SIO_000300: -8.871e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 9.256e0

DP
type: SiteQuality
SIO_000300: 6.0193e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.109+27C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.225+15C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1320C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+27C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 18826
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28858
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3601
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2453
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2033
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 4.64e0

DP
type: SiteQuality
SIO_000300: 6.75227e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.109+16G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.213+16G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.223+16G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426909
ensembl transcript: ENST00000512805
gene symbol: GNB2L1
hgvsc: ENST00000512805.1:c.109+16G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+16G>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1719
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34781
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3022
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11194
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4770
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10678
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 786
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.359e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

FS
type: SiteQuality
SIO_000300: 7.404e0

DP
type: SiteQuality
SIO_000300: 7.40685e5

MQ
type: SiteQuality
SIO_000300: 5.566e1

VQSLOD
type: SiteQuality
SIO_000300: -2.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.217+10A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.109+10A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+10A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.109+10A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.181+10A>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 36425
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7908
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 637
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1859
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5921
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3313
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7615
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.373486297004461e-5
allele num: 15690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

QD
type: SiteQuality
SIO_000300: 1.675e1

DP
type: SiteQuality
SIO_000300: 7.79223e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 7.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.256+8dupC
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1339dupC
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426909
ensembl transcript: ENST00000512805
gene symbol: GNB2L1
hgvsc: ENST00000512805.1:c.109+8dupC
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1339dupC
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+8dupC
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 36636
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3345
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1878
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6177
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 634
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 2.623294858342078e-4
allele num: 3812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.714e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

DP
type: SiteQuality
SIO_000300: 7.86009e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.213+6G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1341G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.51+6G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.219G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1341G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.212+6G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6972
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3513
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1944
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36758
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35535
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.775549188156638e-4
allele num: 2094
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 8.06915e5

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.109+4C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.212+4C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.109+4C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.213+4C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.109+4C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1343C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3817
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36367
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7574
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5303
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2031
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 877
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.444987775061124e-4
allele num: 4090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

FS
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 8.2559e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1350C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.209C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1350C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421356
ensembl transcript: ENST00000513027
gene symbol: GNB2L1
hgvsc: ENST00000513027.1:c.106C>A
hgvsp: ENST00000513027.1:c.106C>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.178C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426111
ensembl transcript: ENST00000503494
gene symbol: GNB2L1
hgvsc: ENST00000503494.1:c.106C>A
hgvsp: ENST00000503494.1:c.106C>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1116
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3284
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10489
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34855
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3995
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2256
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.613264427217915e-5
allele num: 23220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.895e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 8.8492e5

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.185e0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.96C>T
hgvsp: ENST00000506312.1:c.96C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.199C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.38C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1360C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.168C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.96C>T
hgvsp: ENST00000511900.1:c.96C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 289
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 420
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 14922
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 251
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 177
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 424
bin: 5.25e1
variant carriers: 6

GenotypeDepth
all individuals: 693
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2015
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31168
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1274
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4033
bin: 1.25e1
variant carriers: 10

GenotypeDepth
all individuals: 316
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 353
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 144
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 2012
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 586
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29548
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 4.793582469184113e-3
allele num: 10222
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.62564e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 1.306e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.240C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1363C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.201C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.197C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.35C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.197C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 4059
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 706
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1847
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2686
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30310
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1423
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.875468867216804e-4
allele num: 5332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.76705e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 7.34e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.84G>A
hgvsp: ENST00000506312.1:c.84G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.186G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.26G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.231G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.84G>A
hgvsp: ENST00000504726.1:c.84G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1372G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3038
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27856
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17373
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4307
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.881e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 7.4e0

DP
type: SiteQuality
SIO_000300: 1.016572e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.185C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.195C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.153C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.228C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.81C>T
hgvsp: ENST00000512968.1:c.81C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.183C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 17707
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1419
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3204
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4473
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1930
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27217
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17604
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.697681043815167e-5
allele num: 35102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.445e0

FS
type: SiteQuality
SIO_000300: 6.08e0

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.027454e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.219C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.72C>T
hgvsp: ENST00000511900.1:c.72C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.72C>T
hgvsp: ENST00000511566.1:c.72C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1384C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.72C>T
hgvsp: ENST00000504325.1:c.72C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.144C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 19523
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4625
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1952
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1260
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3489
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25079
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 764
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.641868329282469e-5
allele num: 37852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.061563e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

VQSLOD
type: SiteQuality
SIO_000300: -3.58e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1389A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1389A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424760
ensembl transcript: ENST00000508682
gene symbol: GNB2L1
hgvsc: ENST00000508682.1:c.67A>G
hgvsp: ENSP00000424760.1:p.Thr23Ala
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.171A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.67A>G
hgvsp: ENSP00000422198.1:p.Thr23Ala
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24172
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4955
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19842
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2070
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3678
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25877
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 1.073707e6

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 7.877e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514183
gene symbol: GNB2L1
hgvsc: ENST00000514183.1:n.6G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.167G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.64G>A
hgvsp: ENSP00000426270.1:p.Ala22Thr
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.136G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.168G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1392G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 5211
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3776
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19679
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2233
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23790
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25586
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20321
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.779268974632708e-4
allele num: 39342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.525e-1

FS
type: SiteQuality
SIO_000300: 7.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.076812e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

QD
type: SiteQuality
SIO_000300: 7.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.53T>G
hgvsp: ENSP00000426046.1:p.Val18Gly
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.157T>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1403T>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.161T>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.155T>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 3978
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1248
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18250
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23095
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3351
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.465003465003465e-4
allele num: 2886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.096320456630313e-5
allele num: 39244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.635055591890124e-4
allele num: 6116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 1.075962e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 1.95547e2

QD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.715e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.178e0

VQSLOD
type: SiteQuality
SIO_000300: -1.767e2

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.53T>C
hgvsp: ENSP00000420936.1:p.Val18Ala
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1403T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.161T>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.53T>C
hgvsp: ENSP00000426101.1:p.Val18Ala
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.156T>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 6452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3978
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23095
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18250
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1248
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.548160228315156e-5
allele num: 39244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.178e0

FS
type: SiteQuality
SIO_000300: 1.95547e2

VQSLOD
type: SiteQuality
SIO_000300: -1.767e2

MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 1.075962e6

QD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.715e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.156C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.48C>T
hgvsp: ENST00000511900.1:c.48C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.48C>T
hgvsp: ENST00000511566.1:c.48C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.48C>T
hgvsp: ENST00000512968.1:c.48C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1408C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 2382
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4473
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17313
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23201
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1296
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.509536237703272e-5
allele num: 39848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 1.043e1

DP
type: SiteQuality
SIO_000300: 1.070722e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.135C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.137C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.33C>T
hgvsp: ENST00000511566.1:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000394470
ensembl transcript: ENST00000456394
gene symbol: GNB2L1
hgvsc: ENST00000456394.2:c.33C>T
hgvsp: ENST00000456394.2:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1423C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 1576
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23969
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2514
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9061
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14680
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4064
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28846
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.045949214026602e-4
allele num: 4962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.594168309639929e-5
allele num: 38548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.03385e6

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.90C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.126C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.18C>T
hgvsp: ENST00000504726.1:c.18C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.120C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1438C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 750
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2170
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11290
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2161
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24958
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11768
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3553
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 982
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.11410864017499e-5
allele num: 10972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 8.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

FS
type: SiteQuality
SIO_000300: 6.974e0

VQSLOD
type: SiteQuality
SIO_000300: -2.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 9.85372e5

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.12G>A
hgvsp: ENST00000512968.1:c.12G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.159G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.116G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.84G>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.116G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 2137
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2604
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3410
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25265
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 10144
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12328
bin: 1.25e1
variant carriers: 11

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2695
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35642
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 4.065040650406504e-3
allele num: 4428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 9.61642e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.029e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.9G>A
hgvsp: ENST00000504325.1:c.9G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.9G>A
hgvsp: ENST00000511900.1:c.9G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.9G>A
hgvsp: ENST00000511473.1:c.9G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.111G>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2134
bin: 1.75e1
variant carriers: 9

GenotypeDepth
all individuals: 289
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 441
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 12843
bin: 1.25e1
variant carriers: 15

GenotypeDepth
all individuals: 421
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2953
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3325
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 501
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 143
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 313
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25358
bin: 7.5e0
variant carriers: 9

GenotypeDepth
all individuals: 9254
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 749
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 907
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33122
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 968
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 4.935742223877817e-3
allele num: 10738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35002
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.48681e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.69C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1459C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.-4C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 5312
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2152
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14545
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5891
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2575
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25411
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.696871628910464e-4
allele num: 3708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 8.7959e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

QD
type: SiteQuality
SIO_000300: 9.68e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.98C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.-7C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1462C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 5786
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14517
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2456
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5692
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25569
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1886
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 691
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6063
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.439564685427266e-5
allele num: 31058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3026
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 9.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 9.15e0

DP
type: SiteQuality
SIO_000300: 8.69079e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1465C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.-10C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.93C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14437
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6647
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1695
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25546
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5298
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6985
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.323142363418849e-5
allele num: 30092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.575e0

DP
type: SiteQuality
SIO_000300: 8.53009e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.236e0

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

QD
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.90C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000423569
ensembl transcript: ENST00000510199
gene symbol: GNB2L1
hgvsc: ENST00000510199.1:c.254-1469C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000394470
ensembl transcript: ENST00000456394
gene symbol: GNB2L1
hgvsc: ENST00000456394.2:c.-14C>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 659
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14407
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1659
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4809
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2171
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7708
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25138
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.405994550408719e-5
allele num: 29360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.026e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

DP
type: SiteQuality
SIO_000300: 8.37578e5

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.87C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000425008
ensembl transcript: ENST00000512968
gene symbol: GNB2L1
hgvsc: ENST00000512968.1:c.-16C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.-16C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 8573
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2158
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24751
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1597
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4416
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14372
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 664
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.215434083601286e-4
allele num: 3110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.528e0

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.2673e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 3.136e0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.91C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.-18C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.-18C>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 4308
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8912
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24698
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1500
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14301
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9457
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5452
bin: 6.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

DP
type: SiteQuality
SIO_000300: 8.22184e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.52A>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.-21A>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.-21A>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 10329
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2043
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1614
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14115
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3793
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23920
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11073
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

DP
type: SiteQuality
SIO_000300: 8.04803e5

QD
type: SiteQuality
SIO_000300: 1.509e1

VQSLOD
type: SiteQuality
SIO_000300: -7.439999999999999e-2

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000424237
ensembl transcript: ENST00000503081
gene symbol: GNB2L1
hgvsc: ENST00000503081.1:c.-24G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1479G>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000366013
ensembl transcript: ENST00000376817
gene symbol: GNB2L1
hgvsc: ENST00000376817.4:c.-24G>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23412
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3392
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1668
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13548
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11747
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12752
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.552870090634441e-4
allele num: 2648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.87247e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -5.711000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.36e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.48A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000514318
gene symbol: GNB2L1
hgvsc: ENST00000514318.1:n.84A>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000503170
gene symbol: GNB2L1
hgvsc: ENST00000503170.1:n.80A>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 13375
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12156
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1688
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23275
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1925
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.122241086587436e-4
allele num: 4712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

QD
type: SiteQuality
SIO_000300: 1.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

DP
type: SiteQuality
SIO_000300: 7.81898e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.666e-1

FS
type: SiteQuality
SIO_000300: 2.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426101
ensembl transcript: ENST00000511566
gene symbol: GNB2L1
hgvsc: ENST00000511566.1:c.-30G>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422198
ensembl transcript: ENST00000504325
gene symbol: GNB2L1
hgvsc: ENST00000504325.1:c.-30G>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.74G>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1801
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12300
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22831
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2884
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13991
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15593
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24108
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.604051565377532e-4
allele num: 2172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.57131e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1489C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.70C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.69C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 22785
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11333
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15088
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1622
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2026
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21796
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.880733944954129e-4
allele num: 4360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

DP
type: SiteQuality
SIO_000300: 7.37905e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000508963
gene symbol: GNB2L1
hgvsc: ENST00000508963.1:n.63C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000507261
gene symbol: GNB2L1
hgvsc: ENST00000507261.1:n.62C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426270
ensembl transcript: ENST00000506312
gene symbol: GNB2L1
hgvsc: ENST00000506312.1:c.-41C>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2126
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24713
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1283
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2568
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8062
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6306
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.501760563380282e-5
allele num: 18176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.95863e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1496C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000505461
gene symbol: GNB2L1
hgvsc: ENST00000505461.1:n.74C>A
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.-41C>A
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 2126
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1283
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24713
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2568
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8062
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6306
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.95863e5

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.14e-2

QD
type: SiteQuality
SIO_000300: 8.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000422768
ensembl transcript: ENST00000511900
gene symbol: GNB2L1
hgvsc: ENST00000511900.1:c.-45A>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000513060
gene symbol: GNB2L1
hgvsc: ENST00000513060.1:n.103A>C
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.60A>C
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16304
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25216
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7377
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2231
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2475
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6906
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19551
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 6.89608e5

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 1.38e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.-46C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000515417
gene symbol: GNB2L1
hgvsc: ENST00000515417.1:n.27C>T
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000420936
ensembl transcript: ENST00000511473
gene symbol: GNB2L1
hgvsc: ENST00000511473.1:c.-46C>T
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16336
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6841
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 311
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2465
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25622
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7328
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.211093617536636e-4
allele num: 16514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

DP
type: SiteQuality
SIO_000300: 6.86097e5

FS
type: SiteQuality
SIO_000300: 2.131e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.415e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000204628
ensembl transcript: ENST00000502548
gene symbol: GNB2L1
hgvsc: ENST00000502548.1:n.54C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000421416
ensembl transcript: ENST00000507000
gene symbol: GNB2L1
hgvsc: ENST00000507000.1:c.-14-1506C>G
variant of: http://identifiers.org/hgnc/4399

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000204628
ensembl protein: ENSP00000426046
ensembl transcript: ENST00000504726
gene symbol: GNB2L1
hgvsc: ENST00000504726.1:c.-51C>G
variant of: http://identifiers.org/hgnc/4399

GenotypeDepth
all individuals: 308
bin: 6.25e1
variant carriers: 12

GenotypeDepth
all individuals: 420
bin: 5.25e1
variant carriers: 21

GenotypeDepth
all individuals: 2361
bin: 2.25e1
variant carriers: 10

GenotypeDepth
all individuals: 178
bin: 8.25e1
variant carriers: 10

GenotypeDepth
all individuals: 256
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 6298
bin: 1.25e1
variant carriers: 57

GenotypeDepth
all individuals: 16400
bin: 2.5e0
variant carriers: 40

GenotypeDepth
all individuals: 361
bin: 5.75e1
variant carriers: 13

GenotypeDepth
all individuals: 25949
bin: 7.5e0
variant carriers: 189

GenotypeDepth
all individuals: 540
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 487
bin: 3.75e1
variant carriers: 12

GenotypeDepth
all individuals: 150
bin: 8.75e1
variant carriers: 15

GenotypeDepth
all individuals: 411
bin: 4.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1095
bin: 2.75e1
variant carriers: 10

GenotypeDepth
all individuals: 2403
bin: 1.75e1
variant carriers: 18

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 14

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 28

GenotypeDepth
all individuals: 290
bin: 6.75e1
variant carriers: 10

GenotypeDepth
all individuals: 99
bin: 9.25e1
variant carriers: 9

GenotypeDepth
all individuals: 428
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 7729
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 18183
bin: 7.5e0
variant carriers: 12

GenotypeQuality
all individuals: 199
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 455
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1578
bin: 6.25e1
variant carriers: 16

GenotypeQuality
all individuals: 3517
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 9.75e1
variant carriers: 323

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 8857
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 8053
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 691
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1608
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1591
bin: 2.75e1
variant carriers: 21

GenotypeQuality
all individuals: 271
bin: 7.75e1
variant carriers: 4

Other
type: Population
allele count: 1
allele frequency: 3.546099290780142e-3
allele num: 282
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.11864406779661e-3
allele num: 944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

African
type: Population
allele count: 278
allele frequency: 7.756696428571429e-2
allele num: 3584
num of homozygotes: 10

South Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.947293262365312e-4
allele num: 15406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.8371e5

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1