14-39591718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591718
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591718
    reference: chr 14
allele count: 2
allele frequency: 1.657632569164719e-5
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.490A>G
  hgvsp: ENSP00000308533.6:p.Asn164Asp
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.473A>G
  hgvsp: ENSP00000436065.1:p.Asn159Asp
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.490A>G
  hgvsp: ENSP00000379548.2:p.Asn164Asp
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*275A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.456A>G
  hgvsp: ENSP00000434048.1:p.Asn153Asp
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.490A>G
  hgvsp: ENSP00000250379.8:p.Asn164Asp
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.472A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn164Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-39591718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591718
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591718
    reference: chr 14
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*158A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*275A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*285A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.473A>C
  hgvsp: ENSP00000436065.1:p.Asn159His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.456A>C
  hgvsp: ENSP00000434048.1:p.Asn153His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.490A>C
  hgvsp: ENSP00000308533.6:p.Asn164His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.490A>C
  hgvsp: ENSP00000250379.8:p.Asn164His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.490A>C
  hgvsp: ENSP00000379548.2:p.Asn164His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.472A>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7628
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn164His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-39591728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591728
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591728
    reference: chr 14
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.466C>T
  hgvsp: ENSP00000434048.1:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.500C>T
  hgvsp: ENSP00000308533.6:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.483C>T
  hgvsp: ENSP00000436065.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.500C>T
  hgvsp: ENSP00000250379.8:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.500C>T
  hgvsp: ENSP00000379548.2:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*285C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.482C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45120
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro167Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

14-39591730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591730
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591730
    reference: chr 14
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.468G>A
  hgvsp: ENSP00000434048.1:p.Gly157Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.502G>A
  hgvsp: ENSP00000308533.6:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*287G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*297G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.502G>A
  hgvsp: ENSP00000379548.2:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.485G>A
  hgvsp: ENSP00000436065.1:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.502G>A
  hgvsp: ENSP00000250379.8:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.484G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30156
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly168Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

14-39591736-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591736
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591736
    reference: chr 14
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.508G>C
  hgvsp: ENSP00000250379.8:p.Asp170His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.508G>C
  hgvsp: ENSP00000308533.6:p.Asp170His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*293G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*176G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*303G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.508G>C
  hgvsp: ENSP00000379548.2:p.Asp170His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.491G>C
  hgvsp: ENSP00000436065.1:p.Asp165His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.474G>C
  hgvsp: ENSP00000434048.1:p.Asp159His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.490G>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp170His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

14-39591741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591741
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591741
    reference: chr 14
allele count: 1
allele frequency: 8.404208827780952e-6
allele num: 118988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*298T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.513T>C
  hgvsp: ENST00000396249.2:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.495T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.496T>C
  hgvsp: ENST00000534684.2:c.496T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.513T>C
  hgvsp: ENST00000250379.8:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.479T>C
  hgvsp: ENST00000527381.1:c.479T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*308T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.513T>C
  hgvsp: ENST00000308317.6:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*181T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr171Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

14-39591744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591744
    reference: chr 14
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.499A>G
  hgvsp: ENST00000534684.2:c.499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*311A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.516A>G
  hgvsp: ENST00000396249.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.482A>G
  hgvsp: ENST00000527381.1:c.482A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*301A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.516A>G
  hgvsp: ENST00000308317.6:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.516A>G
  hgvsp: ENST00000250379.8:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.498A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val172Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

14-39591753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591753
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591753
    reference: chr 14
allele count: 1
allele frequency: 8.625597322614591e-6
allele num: 115934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+6G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.507G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26641
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
hgvs: c.519+6G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-39591757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591757
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591757
    reference: chr 14
allele count: 1
allele frequency: 8.766854277348202e-6
allele num: 114066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.511G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+10G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+10G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-39591759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591759
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591759
    reference: chr 14
allele count: 4
allele frequency: 3.536192934686517e-5
allele num: 113116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.513G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+12G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+12G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10108
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-39591769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591769
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591769
    reference: chr 14
allele count: 1
allele frequency: 9.266981744045964e-6
allele num: 107910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+22A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.523A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-39591792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591792
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591792
    reference: chr 14
allele count: 1
allele frequency: 1.041948861149895e-5
allele num: 95974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.546G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+45G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+45G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-39591795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591795
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591795
    reference: chr 14
allele count: 3
allele frequency: 3.207458409955951e-5
allele num: 93532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+48G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.549G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+48G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21337
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14189
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9245
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-39591798-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591798
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591798
    reference: chr 14
allele count: 3
allele frequency: 3.28515111695138e-5
allele num: 91320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.552C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+51C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+51C>A
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

14-39591798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591798
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591798
    reference: chr 14
allele count: 1
allele frequency: 1.095050372317127e-5
allele num: 91320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.552C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+51C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+51C>T
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-39591799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39591799
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39591799
    reference: chr 14
allele count: 1
allele frequency: 1.106414994136001e-5
allele num: 90382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092208
  ensembl transcript: ENST00000525430
  gene symbol: GEMIN2
  hgvsc: ENST00000525430.1:n.553C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.502+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.485+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.519+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*187+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*304+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*314+52C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.519+52C>T
  variant of: http://identifiers.org/hgnc/10884
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

14-39594146-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594146
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594146
    reference: chr 14
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2399T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-50T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-50T>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

14-39594149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594149
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594149
    reference: chr 14
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2402A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-47A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-47A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-39594150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594150
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594150
    reference: chr 14
allele count: 2
allele frequency: 1.665528555487084e-5
allele num: 120082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2403G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-46G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
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: G
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-39594153-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594150
    reference: chr 14
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-39_503-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-39_*188-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-39_520-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-39_520-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2410_519+2412delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-39_486-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-39_*305-37delATA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-39_*315-37delATA
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: TATA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

14-39594173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594173
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594173
    reference: chr 14
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2426T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-23T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-23T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

14-39594174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594174
    reference: chr 14
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2427T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-22T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

14-39594175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594175
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594175
    reference: chr 14
allele count: 3
allele frequency: 2.489089491064169e-5
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.503-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.520-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.520-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2428C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*305-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.486-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*315-21C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*188-21C>T
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-39594207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594207
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594207
    reference: chr 14
allele count: 3
allele frequency: 2.47999470934462e-5
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*199T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*316T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*326T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.531T>C
  hgvsp: ENST00000308317.6:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.531T>C
  hgvsp: ENST00000396249.2:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.497T>C
  hgvsp: ENST00000527381.1:c.497T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.514T>C
  hgvsp: ENST00000534684.2:c.514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2460T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro177Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS

14-39594215-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594215
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594215
    reference: chr 14
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*207T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.539T>A
  hgvsp: ENSP00000308533.6:p.Leu180His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.522T>A
  hgvsp: ENSP00000436065.1:p.Leu175His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*334T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2468T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*324T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.505T>A
  hgvsp: ENSP00000434048.1:p.Leu169His
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.539T>A
  hgvsp: ENSP00000379548.2:p.Leu180His
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu180His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-39594216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594216
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594216
    reference: chr 14
allele count: 40
allele frequency: 3.305839765946544e-4
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*325T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.506T>C
  hgvsp: ENST00000527381.1:c.506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2469T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.523T>C
  hgvsp: ENST00000534684.2:c.523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.540T>C
  hgvsp: ENST00000396249.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*208T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.540T>C
  hgvsp: ENST00000308317.6:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*335T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43463
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu180Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-39594219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594219
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594219
    reference: chr 14
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*328T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.509T>C
  hgvsp: ENST00000527381.1:c.509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2472T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*338T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.526T>C
  hgvsp: ENST00000534684.2:c.526T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.543T>C
  hgvsp: ENST00000308317.6:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*211T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.543T>C
  hgvsp: ENST00000396249.2:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser181Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/14-39594228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594228
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594228
    reference: chr 14
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2481C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*337C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.552C>A
  hgvsp: ENSP00000379548.2:p.Ser184Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*347C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*220C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.535C>A
  hgvsp: ENSP00000436065.1:p.Ser179Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.552C>A
  hgvsp: ENSP00000308533.6:p.Ser184Arg
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.518C>A
  hgvsp: ENSP00000434048.1:p.Ser173Arg
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser184Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-39594234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594234
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594234
    reference: chr 14
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.558G>C
  hgvsp: ENSP00000308533.6:p.Met186Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*343G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*353G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2487G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.541G>C
  hgvsp: ENSP00000436065.1:p.Met181Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*226G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.524G>C
  hgvsp: ENSP00000434048.1:p.Met175Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.558G>C
  hgvsp: ENSP00000379548.2:p.Met186Ile
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met186Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

14-39594237-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594237
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594237
    reference: chr 14
allele count: 4
allele frequency: 3.30660494337439e-5
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.561T>C
  hgvsp: ENST00000396249.2:c.561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*356T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*346T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.561T>C
  hgvsp: ENST00000308317.6:c.561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.544T>C
  hgvsp: ENST00000534684.2:c.544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.527T>C
  hgvsp: ENST00000527381.1:c.527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*229T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2490T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn187Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-39594241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594241
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594241
    reference: chr 14
allele count: 5
allele frequency: 4.133666231253823e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2494G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+1G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+1G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
hgvs: c.564+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

14-39594249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594249
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594249
    reference: chr 14
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2502A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+9A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+9A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-39594254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594254
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594254
    reference: chr 14
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2507T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+14T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+14T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-39594262-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594262
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594262
    reference: chr 14
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2515T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+22T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+22T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

14-39594263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594263
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594263
    reference: chr 14
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2516A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+23A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+23A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-39594270-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594270
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594270
    reference: chr 14
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2523C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+30C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+30C>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

14-39594274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594274
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594274
    reference: chr 14
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2527T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+34T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+34T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-39594278-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594278
    reference: chr 14
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2531T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+38T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+38T>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

14-39594282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594282
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594282
    reference: chr 14
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2535T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+42T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+42T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-39594286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594286
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594286
    reference: chr 14
allele count: 2
allele frequency: 1.657989853102099e-5
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2539G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+46G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+46G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43433
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-39594287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39594287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39594287
    reference: chr 14
allele count: 19
allele frequency: 1.575038132502155e-4
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.564+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.530+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*232+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*349+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*359+47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.519+2540T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.564+47T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 43438
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

14-39597437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597437
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597437
    reference: chr 14
allele count: 2
allele frequency: 1.677767897589047e-5
allele num: 119206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3197T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-47T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-47T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-39597444-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597444
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597444
    reference: chr 14
allele count: 1
allele frequency: 8.384759860477596e-6
allele num: 119264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3204A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-40A>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-40A>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-39597465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597465
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597465
    reference: chr 14
allele count: 1
allele frequency: 8.34153584357952e-6
allele num: 119882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3225C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-19C>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-19C>T
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-39597467-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597467
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597465
    reference: chr 14
allele count: 4
allele frequency: 3.335668301144134e-5
allele num: 119916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-14_565-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3230_547+3231delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-14_565-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-14_*350-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-14_531-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-14_520-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-14_*233-13delCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-14_*360-13delCT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CCT
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-39597468-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597468
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597465
    reference: chr 14
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3230_547+3232delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-14_520-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-14_*233-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-14_565-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-14_*360-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-14_531-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-14_*350-12delCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-14_565-12delCTT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: CTCT
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

14-39597469-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597469
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
allele count: 58
allele frequency: 4.847552821610056e-4
allele num: 119648
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3230dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-14dupC
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-14dupC
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28860
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

14-39597470-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597471
    reference: chr 14
allele count: 4478
allele frequency: 5.404948702474351e-2
allele num: 82850
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-3dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3241dupT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-3dupT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 1524
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 507
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 310
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 1.25e1
  variant carriers: 433
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 2.5e0
  variant carriers: 441
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 467
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: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

14-39597470-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597472
    reference: chr 14
allele count: 12
allele frequency: 1.448400724200362e-4
allele num: 82850
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-4_565-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-4_*233-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-4_531-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-4_*350-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-4_*360-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3240_547+3241dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-4_520-3dupTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-4_565-3dupTT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-39597470-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597469
    reference: chr 14
allele count: 11482
allele frequency: 1.385878092939047e-1
allele num: 82850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3241delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-3delT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-3delT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 1338
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 1571
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 1522
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 694
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 1189
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 1576
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 1122
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 1958
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 761
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 4.75e1
  variant carriers: 646
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 843
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 9.75e1
  variant carriers: 3053
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 498
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 2.5e0
  variant carriers: 888
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.25e1
  variant carriers: 918
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: CT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

14-39597470-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597468
    reference: chr 14
allele count: 52
allele frequency: 6.276403138201569e-4
allele num: 82850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-4_531-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-4_*360-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-4_*233-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-4_*350-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-4_565-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3240_547+3241delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-4_520-3delTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-4_565-3delTT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 6
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: CTT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

14-39597470-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597472
    reference: chr 14
allele count: 11
allele frequency: 1.327700663850332e-4
allele num: 82850
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-14_565-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-14_*360-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-14_520-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3230_547+3231insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-14_*350-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-14_565-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-14_*233-13insCT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-14_531-13insCT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-39597470-C-CCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597473
    reference: chr 14
allele count: 1
allele frequency: 1.207000603500302e-5
allele num: 82850
alternate allele: CCTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3230_547+3231insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-14_531-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-14_*350-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-14_565-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-14_*360-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-14_520-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-14_565-13insCTT
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-14_*233-13insCTT
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-39597471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597471
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597471
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 22844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3231T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-13T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-13T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-39597475-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597475
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597475
    reference: chr 14
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-9T>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3235T>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

14-39597476-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597476
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597476
    reference: chr 14
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3236T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-8T>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-8T>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: c.565-8T>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

14-39597481-T-TTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597485
    reference: chr 14
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: TTTTG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-3_*360-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-3_*233-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-3_565-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-3_531-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3241_547+3242insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-3_*350-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-3_520-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-3_565-2insTTTG
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: c.565-3_565-2insTTTG
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

14-39597481-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597480
    reference: chr 14
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-2delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3242delA
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: c.565-2delA
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: TA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

14-39597482-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597482
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597482
    reference: chr 14
allele count: 28
allele frequency: 2.358490566037736e-4
allele num: 118720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3242A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520-2A>T
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531-2A>T
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23388
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
hgvs: c.565-2A>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-39597484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597484
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597484
    reference: chr 14
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.531G>A
  hgvsp: ENSP00000434048.1:p.Ala178Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.565G>A
  hgvsp: ENSP00000308533.6:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.520G>A
  hgvsp: ENSP00000250379.8:p.Ala174Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*350G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.565G>A
  hgvsp: ENSP00000379548.2:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3244G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala189Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-39597494-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597494
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597494
    reference: chr 14
allele count: 34
allele frequency: 2.81001024827267e-4
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.541C>A
  hgvsp: ENSP00000434048.1:p.Thr181Asn
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*360C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.530C>A
  hgvsp: ENSP00000250379.8:p.Thr177Asn
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3254C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.575C>A
  hgvsp: ENSP00000379548.2:p.Thr192Asn
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.575C>A
  hgvsp: ENSP00000308533.6:p.Thr192Asn
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*370C>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*243C>A
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr192Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-39597497-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597497
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597497
    reference: chr 14
allele count: 3
allele frequency: 2.47827379968939e-5
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.533G>C
  hgvsp: ENSP00000250379.8:p.Ser178Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.544G>C
  hgvsp: ENSP00000434048.1:p.Ser182Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3257G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.578G>C
  hgvsp: ENSP00000308533.6:p.Ser193Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.578G>C
  hgvsp: ENSP00000379548.2:p.Ser193Thr
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*373G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*246G>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*363G>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23941
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser193Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

14-39597498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597498
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597498
    reference: chr 14
allele count: 6
allele frequency: 4.955974427171956e-5
allele num: 121066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.534T>C
  hgvsp: ENST00000250379.8:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*374T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*364T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*247T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.579T>C
  hgvsp: ENST00000308317.6:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.545T>C
  hgvsp: ENST00000527381.1:c.545T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3258T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.579T>C
  hgvsp: ENST00000396249.2:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser193Ser
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

14-39597499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597499
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597499
    reference: chr 14
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3259G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.546G>A
  hgvsp: ENSP00000434048.1:p.Val183Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.580G>A
  hgvsp: ENSP00000379548.2:p.Val194Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*365G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.535G>A
  hgvsp: ENSP00000250379.8:p.Val179Ile
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*375G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.580G>A
  hgvsp: ENSP00000308533.6:p.Val194Ile
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val194Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-39597514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597514
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597514
    reference: chr 14
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.550A>G
  hgvsp: ENSP00000250379.8:p.Ser184Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3274A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.595A>G
  hgvsp: ENSP00000379548.2:p.Ser199Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*380A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.561A>G
  hgvsp: ENSP00000434048.1:p.Ser188Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*263A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.595A>G
  hgvsp: ENSP00000308533.6:p.Ser199Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*390A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser199Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-39597519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597519
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597519
    reference: chr 14
allele count: 4
allele frequency: 3.298316209575012e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.555T>C
  hgvsp: ENST00000250379.8:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.600T>C
  hgvsp: ENST00000308317.6:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*385T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.566T>C
  hgvsp: ENST00000527381.1:c.566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.600T>C
  hgvsp: ENST00000396249.2:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*268T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*395T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3279T>C
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn200Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-39597523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597523
    reference: chr 14
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*272T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3283T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.604T>C
  hgvsp: ENSP00000308533.6:p.Phe202Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*389T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.570T>C
  hgvsp: ENSP00000434048.1:p.Phe191Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*399T>C
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.559T>C
  hgvsp: ENSP00000250379.8:p.Phe187Leu
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.604T>C
  hgvsp: ENSP00000379548.2:p.Phe202Leu
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe202Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

14-39597529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597529
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597529
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.576G>A
  hgvsp: ENSP00000434048.1:p.Glu193Lys
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*395G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.610G>A
  hgvsp: ENSP00000308533.6:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3289G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*405G>A
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.610G>A
  hgvsp: ENSP00000379548.2:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.565G>A
  hgvsp: ENSP00000250379.8:p.Glu189Lys
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23942
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu204Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-39597532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597532
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597532
    reference: chr 14
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.613A>G
  hgvsp: ENSP00000308533.6:p.Arg205Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*398A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*281A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.613A>G
  hgvsp: ENSP00000379548.2:p.Arg205Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*408A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.568A>G
  hgvsp: ENSP00000250379.8:p.Arg190Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.579A>G
  hgvsp: ENSP00000434048.1:p.Arg194Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3292A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg205Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

14-39597536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597536
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597536
    reference: chr 14
allele count: 18
allele frequency: 1.483752905682774e-4
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.583A>G
  hgvsp: ENSP00000434048.1:p.Asp195Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*402A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.617A>G
  hgvsp: ENSP00000379548.2:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.617A>G
  hgvsp: ENSP00000308533.6:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.572A>G
  hgvsp: ENSP00000250379.8:p.Asp191Gly
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*412A>G
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3296A>G
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp206Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

14-39597540-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39597540
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 39597539
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000379548
  ensembl transcript: ENST00000396249
  gene symbol: GEMIN2
  hgvsc: ENST00000396249.2:c.622delA
  hgvsp: ENSP00000379548.2:p.Thr208LeufsTer26
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000308533
  ensembl transcript: ENST00000308317
  gene symbol: GEMIN2
  hgvsc: ENST00000308317.6:c.622delA
  hgvsp: ENSP00000308533.6:p.Thr208LeufsTer26
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000416827
  ensembl transcript: ENST00000412033
  gene symbol: GEMIN2
  hgvsc: ENST00000412033.2:c.*407delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000250379
  ensembl transcript: ENST00000250379
  gene symbol: GEMIN2
  hgvsc: ENST00000250379.8:c.577delA
  hgvsp: ENSP00000250379.8:p.Thr193LeufsTer26
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000431500
  ensembl transcript: ENST00000531684
  gene symbol: GEMIN2
  hgvsc: ENST00000531684.1:c.*417delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000434048
  ensembl transcript: ENST00000527381
  gene symbol: GEMIN2
  hgvsc: ENST00000527381.1:c.588delA
  hgvsp: ENSP00000434048.1:p.Thr197LeufsTer?
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436854
  ensembl transcript: ENST00000525153
  gene symbol: GEMIN2
  hgvsc: ENST00000525153.1:c.*290delA
  variant of: http://identifiers.org/hgnc/10884
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092208
  ensembl protein: ENSP00000436065
  ensembl transcript: ENST00000534684
  gene symbol: GEMIN2
  hgvsc: ENST00000534684.2:c.547+3301delA
  variant of: http://identifiers.org/hgnc/10884
canonical: true
consequence: frameshift
filter: PASS
hgvs: p.Thr208LeufsTer26
num of homozygotes: 0
reference allele: TA

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

BaseQRankSum
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.1e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.0185e1

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10258
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

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

MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
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DP
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SIO_000300: 1.73597e6

BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516852228255923e-5
allele num: 65926
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.188e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

DP
type: SiteQuality
SIO_000300: 1.733124e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.292e1

MQRankSum
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BaseQRankSum
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SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.721356e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.492e0

VQSLOD
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SIO_000300: -3.137e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64936
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European (Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.602975121826109e-5
allele num: 62384
num of homozygotes: 0

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

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

ClippingRankSum
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MQ
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 3.522e0

VQSLOD
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61844
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 4
allele frequency: 5.011275369581559e-4
allele num: 7982
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.46e-1

ClippingRankSum
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SIO_000300: -1.26e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

DP
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SIO_000300: 1.52918e6

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

African
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allele frequency: 1.068376068376068e-4
allele num: 9360
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 58912
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6274
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Latino
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.841e1

ReadPosRankSum
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SIO_000300: 9.84e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8950
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.917986880969734e-5
allele num: 52138
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5954
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QD
type: SiteQuality
SIO_000300: 2.945e1

MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -5.3e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -1.083e0

FS
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MQ
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SIO_000300: 5.716e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
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SIO_000300: -3.15e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.942751251823522e-5
allele num: 50726
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 7.625438462711606e-5
allele num: 13114
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

African
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East Asian
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South Asian
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allele num: 12792
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Latino
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European (Non-Finnish)
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Other
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ClippingRankSum
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DP
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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allele num: 49604
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MQ
type: SiteQuality
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 49160
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African
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European (Finnish)
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Other
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Latino
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South Asian
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East Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.824e1

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.400759e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.553e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43425
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.237776952593143e-4
allele num: 16158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 3.401922e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.648e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.576e0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 993
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variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 561
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4353
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.183527083848628e-5
allele num: 16172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.686e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

DP
type: SiteQuality
SIO_000300: 3.406122e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43436
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 9.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.426888e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.118e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.83e0

DP
type: SiteQuality
SIO_000300: 3.427372e6

VQSLOD
type: SiteQuality
SIO_000300: -5.329e-1

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43435
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.836434867776689e-4
allele num: 16336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

DP
type: SiteQuality
SIO_000300: 3.428065e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.919e0

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

GenotypeQuality
all individuals: 1261
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43437
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.935420743639922e-4
allele num: 10220
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.434579e6

FS
type: SiteQuality
SIO_000300: 5.4e-1

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

GenotypeQuality
all individuals: 6836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.434526e6

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.707076775201249e-4
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 3.436137e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 9.25e1
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GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.087e0

VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.953e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e0

DP
type: SiteQuality
SIO_000300: 3.434881e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.06e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -1.388e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.992e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 2.627e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.013e0

QD
type: SiteQuality
SIO_000300: 8.69e0

DP
type: SiteQuality
SIO_000300: 3.434396e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.119e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 2.862e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 3.434274e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004717406327935e-5
allele num: 66562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

FS
type: SiteQuality
SIO_000300: 1.144e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 3.43418e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.009795967426906e-5
allele num: 66558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 3.433945e6

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 3.518e0

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.3e-3

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.431418e6

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
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African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.763e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

DP
type: SiteQuality
SIO_000300: 3.427754e6

GenotypeQuality
all individuals: 5273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.422549e6

QD
type: SiteQuality
SIO_000300: 1.236e1

FS
type: SiteQuality
SIO_000300: 6.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.895e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.373e0

VQSLOD
type: SiteQuality
SIO_000300: -3.31e-2

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 3.658e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 3.419126e6

MQRankSum
type: SiteQuality
SIO_000300: -1.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4439
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variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

FS
type: SiteQuality
SIO_000300: 5.552e0

DP
type: SiteQuality
SIO_000300: 3.416821e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
all individuals: 43433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 2.746e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.881e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.328e0

DP
type: SiteQuality
SIO_000300: 3.415153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.958e0

FS
type: SiteQuality
SIO_000300: 9.837999999999999e0

QD
type: SiteQuality
SIO_000300: 1.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.844e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.413784e6

GenotypeQuality
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1836
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.906771344455348e-4
allele num: 10190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 13
allele frequency: 1.50462962962963e-3
allele num: 8640
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 3.413635e6

QD
type: SiteQuality
SIO_000300: 1.378e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046644121500167e-5
allele num: 65646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.092e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.534582e6

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.081e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 2.546921e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 28883
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 2623
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GenotypeQuality
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GenotypeQuality
all individuals: 3682
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GenotypeQuality
all individuals: 2461
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 2.587695e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 5.74e0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28885
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8648
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027184113337773e-5
allele num: 66068
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 2.589898e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 7.23e0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

QD
type: SiteQuality
SIO_000300: 6.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.590528e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 4405
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2613
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4262
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2453
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.829771733851384e-4
allele num: 65888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

African
type: Population
allele count: 13
allele frequency: 1.322213181448332e-3
allele num: 9832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.542100000000001e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 2.597066e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.927e0

QD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.677e1

GenotypeQuality
all individuals: 3515
bin: 2.25e1
variant carriers: 354

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 155

GenotypeQuality
all individuals: 3187
bin: 2.75e1
variant carriers: 346

GenotypeQuality
all individuals: 2225
bin: 5.25e1
variant carriers: 227

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 118

GenotypeQuality
all individuals: 2446
bin: 4.75e1
variant carriers: 230

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 137

GenotypeQuality
all individuals: 3168
bin: 1.75e1
variant carriers: 356

GenotypeQuality
all individuals: 2728
bin: 3.75e1
variant carriers: 276

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 147

GenotypeQuality
all individuals: 7904
bin: 9.75e1
variant carriers: 1266

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 135

GenotypeQuality
all individuals: 2590
bin: 6.25e1
variant carriers: 183

South Asian
type: Population
allele count: 1722
allele frequency: 1.443178008716058e-1
allele num: 11932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.883227176220807e-3
allele num: 4710
num of homozygotes: 0

African
type: Population
allele count: 240
allele frequency: 3.525264394829612e-2
allele num: 6808
num of homozygotes: 0

Latino
type: Population
allele count: 418
allele frequency: 5.337078651685393e-2
allele num: 7832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1842
allele frequency: 4.092969513820994e-2
allele num: 45004
num of homozygotes: 0

East Asian
type: Population
allele count: 188
allele frequency: 3.195105370496261e-2
allele num: 5884
num of homozygotes: 0

Other
type: Population
allele count: 45
allele frequency: 6.617647058823529e-2
allele num: 680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.914457e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 3625
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8799
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 7904
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.276813074565884e-4
allele num: 7832
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.937720329024677e-4
allele num: 6808
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.399048266485384e-4
allele num: 5884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.333214825348858e-4
allele num: 45004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.380824673147838e-5
allele num: 11932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 3.914457e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 3168
bin: 1.75e1
variant carriers: 956

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 278

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 466

GenotypeQuality
all individuals: 3450
bin: 1.25e1
variant carriers: 1028

GenotypeQuality
all individuals: 2225
bin: 5.25e1
variant carriers: 592

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 364

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 321

GenotypeQuality
all individuals: 2641
bin: 4.25e1
variant carriers: 689

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 435

GenotypeQuality
all individuals: 2065
bin: 5.75e1
variant carriers: 526

GenotypeQuality
all individuals: 2728
bin: 3.75e1
variant carriers: 712

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 381

GenotypeQuality
all individuals: 3625
bin: 7.5e0
variant carriers: 1119

Latino
type: Population
allele count: 1051
allele frequency: 1.341930541368744e-1
allele num: 7832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 233
allele frequency: 4.946921443736731e-2
allele num: 4710
num of homozygotes: 0

African
type: Population
allele count: 807
allele frequency: 1.185370152761457e-1
allele num: 6808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6227
allele frequency: 1.383654786241223e-1
allele num: 45004
num of homozygotes: 0

Other
type: Population
allele count: 85
allele frequency: 1.25e-1
allele num: 680
num of homozygotes: 0

East Asian
type: Population
allele count: 787
allele frequency: 1.337525492861999e-1
allele num: 5884
num of homozygotes: 0

South Asian
type: Population
allele count: 2292
allele frequency: 1.920885015085484e-1
allele num: 11932
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 3.914457e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2446
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3515
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8799
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2225
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 22
allele frequency: 3.738953093133923e-3
allele num: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.553626149131767e-4
allele num: 7832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.999644476046574e-4
allele num: 45004
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.937720329024677e-4
allele num: 6808
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.470588235294118e-3
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.866577271203486e-4
allele num: 11932
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.914457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3450
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8799
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.468860164512338e-4
allele num: 6808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.222024708914763e-4
allele num: 45004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11932
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 3.914457e6

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.468860164512338e-4
allele num: 6808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

DP
type: SiteQuality
SIO_000300: 3.914457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.9776e1

DP
type: SiteQuality
SIO_000300: 1.206659e6

QD
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.434e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.19e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.794478e6

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

QD
type: SiteQuality
SIO_000300: 1.801e1

FS
type: SiteQuality
SIO_000300: 9.42e0

MQ
type: SiteQuality
SIO_000300: 5.68e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -1.174e0

VQSLOD
type: SiteQuality
SIO_000300: -1.725e0

DP
type: SiteQuality
SIO_000300: 2.794623e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.482e0

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 2.796157e6

FS
type: SiteQuality
SIO_000300: 6.6947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.486e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.6947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.486e1

GenotypeQuality
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variant carriers: 2

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

European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.383990647880391e-4
allele num: 65012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
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allele count: 5
allele frequency: 5.16422226812642e-4
allele num: 9682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.826e1

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

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

FS
type: SiteQuality
SIO_000300: 8.521899999999999e1

BaseQRankSum
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SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.214e0

QD
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 2.795965e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6699e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

East Asian
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allele count: 33
allele frequency: 3.834534046014409e-3
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 5.89e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.365e0

DP
type: SiteQuality
SIO_000300: 2.788734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.788052e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.445e-1

FS
type: SiteQuality
SIO_000300: 6.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.637686431429611e-4
allele num: 16494
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 2.788117e6

QD
type: SiteQuality
SIO_000300: 1.636e1

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.15e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.788069e6

FS
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.625e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.688e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.886e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

DP
type: SiteQuality
SIO_000300: 2.790049e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 2.790342e6

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.093e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.862e1

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.3998800059997e-4
allele num: 66670
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.790957e6

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0