19-1387845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387845
    reference: chr 19
allele count: 9
allele frequency: 7.612409919815948e-5
allele num: 118228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.102C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.303C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.52C>T
  hgvsp: ENSP00000364262.5:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.79C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.52C>T
  hgvsp: ENSP00000440348.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.75C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.52C>T
  hgvsp: ENSP00000233627.9:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.52C>T
  hgvsp: ENSP00000406630.2:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.142C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.52C>T
  hgvsp: ENSP00000443273.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.47C>T
  hgvsp: ENSP00000442822.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.95C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.42C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*48C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg18Cys
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: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-1387846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387846
    reference: chr 19
allele count: 1
allele frequency: 8.457804015765346e-6
allele num: 118234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53G>A
  hgvsp: ENSP00000233627.9:p.Arg18His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53G>A
  hgvsp: ENSP00000443273.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48G>A
  hgvsp: ENST00000534853.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53G>A
  hgvsp: ENSP00000364262.5:p.Arg18His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53G>A
  hgvsp: ENSP00000406630.2:p.Arg18His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53G>A
  hgvsp: ENSP00000440348.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

19-1387856-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387856
    reference: chr 19
allele count: 9
allele frequency: 7.636178516884439e-5
allele num: 117860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+10T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+10T>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

19-1387857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387857
    reference: chr 19
allele count: 1
allele frequency: 8.487523340689187e-6
allele num: 117820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+11G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+11G>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-1387860-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387860
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387860
    reference: chr 19
allele count: 4
allele frequency: 3.403038913749979e-5
allele num: 117542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+14T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+14T>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-1387865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387865
    reference: chr 19
allele count: 2
allele frequency: 1.704797299601078e-5
allele num: 117316
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+19A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+19A>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-1387866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387866
    reference: chr 19
allele count: 3
allele frequency: 2.560732027929051e-5
allele num: 117154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+20G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+20G>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

19-1387869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387869
    reference: chr 19
allele count: 1
allele frequency: 8.541752084187508e-6
allele num: 117072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+23C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+23C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-1387879-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387877
    reference: chr 19
allele count: 3
allele frequency: 2.591479216336685e-5
allele num: 115764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+36_143+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+36_304+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+36_80+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+36_43+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+36_76+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+36_48+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+36_53+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+36_53+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+36_103+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+36_*49+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+36_96+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+36_53+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+36_53+37delGG
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+36_53+37delGG
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: AGG
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

19-1387882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387882
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387882
    reference: chr 19
allele count: 1
allele frequency: 8.617866560954171e-6
allele num: 116038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+36G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+36G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-1387891-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387892
    reference: chr 19
allele count: 2
allele frequency: 1.817190623296384e-5
allele num: 110060
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+46dupA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+46dupA
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1387894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387894
    reference: chr 19
allele count: 1
allele frequency: 9.411941871846999e-6
allele num: 106248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+48C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+48C>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-1387894-C-CGACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387898
    reference: chr 19
allele count: 13
allele frequency: 1.22355244334011e-4
allele num: 106248
alternate allele: CGACA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+52_53+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+52_304+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+52_96+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+52_*49+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+52_43+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+52_76+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+52_103+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+52_53+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+52_53+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+52_48+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+52_80+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+52_53+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+52_143+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+52_53+55dupAGAC
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-1387894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387894
    reference: chr 19
allele count: 1
allele frequency: 9.411941871846999e-6
allele num: 106248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+48C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+48C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-1387895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1387895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1387895
    reference: chr 19
allele count: 1
allele frequency: 9.614090410906224e-6
allele num: 104014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.53+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.103+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.48+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.80+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.76+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.53+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.53+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.43+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.304+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.96+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*49+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.53+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.53+49G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.143+49G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-1388474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388474
    reference: chr 19
allele count: 29
allele frequency: 3.326603652381389e-4
allele num: 87176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-50A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-50A>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-1388487-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388487
    reference: chr 19
allele count: 2
allele frequency: 2.016129032258065e-5
allele num: 99200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-37T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-37T>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-1388491-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388491
    reference: chr 19
allele count: 11
allele frequency: 1.099560175929628e-4
allele num: 100040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-33A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-33A>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/19-1388492-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388492
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388491
    reference: chr 19
allele count: 1
allele frequency: 9.706287733193562e-6
allele num: 103026
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-31delA
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-31delA
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CA
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1388497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388497
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388497
    reference: chr 19
allele count: 1
allele frequency: 9.484426571569482e-6
allele num: 105436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-27A>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-27A>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

19-1388499-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388499
    reference: chr 19
allele count: 1
allele frequency: 9.421341222136384e-6
allele num: 106142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-25T>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-25T>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28533
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1388504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388504
    reference: chr 19
allele count: 3
allele frequency: 2.780558336113892e-5
allele num: 107892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-20C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-20C>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-1388504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388504
    reference: chr 19
allele count: 1
allele frequency: 9.268527787046306e-6
allele num: 107892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-20C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-20C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-1388505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388505
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388505
    reference: chr 19
allele count: 83
allele frequency: 7.668853367827774e-4
allele num: 108230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-19G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-19G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-1388506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388506
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388506
    reference: chr 19
allele count: 135
allele frequency: 1.244010320678216e-3
allele num: 108520
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-18C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-18C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30261
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-1388507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388507
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388507
    reference: chr 19
allele count: 9
allele frequency: 8.259305484178842e-5
allele num: 108968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-17G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-17G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-1388510-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388510
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388510
    reference: chr 19
allele count: 1
allele frequency: 9.131252625235129e-6
allele num: 109514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-14C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-14C>G
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1388518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388518
    reference: chr 19
allele count: 5
allele frequency: 4.526853293738457e-5
allele num: 110452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-6C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-6C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.54-6C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-1388519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388519
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388519
    reference: chr 19
allele count: 4
allele frequency: 3.614479605298827e-5
allele num: 110666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-5G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-5G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.54-5G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-1388521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388521
    reference: chr 19
allele count: 1
allele frequency: 9.00009000090001e-6
allele num: 111110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.54-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.81-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.97-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.54-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*50-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.104-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.144-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.305-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.281-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.306-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.44-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.77-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.54-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.49-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.54-3C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.54-3C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.54-3C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-1388526-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388526
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388526
    reference: chr 19
allele count: 1
allele frequency: 8.945023883213768e-6
allele num: 111794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.308C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.56C>G
  hgvsp: ENSP00000364262.5:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.146C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.56C>G
  hgvsp: ENSP00000443273.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.56C>G
  hgvsp: ENSP00000406630.2:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.307C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.83C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.46C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.56C>G
  hgvsp: ENSP00000440348.1:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.56C>G
  hgvsp: ENSP00000233627.9:p.Ser19Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.79C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.106C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.99C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.283C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*52C>G
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.51C>G
  hgvsp: ENST00000534853.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser19Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-1388531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388531
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388531
    reference: chr 19
allele count: 3
allele frequency: 2.666903724775535e-5
allele num: 112490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*57G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.56G>A
  hgvsp: ENSP00000442822.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.111G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.312G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.61G>A
  hgvsp: ENSP00000364262.5:p.Val21Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.88G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.61G>A
  hgvsp: ENSP00000440348.1:p.Val21Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.104G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.61G>A
  hgvsp: ENSP00000406630.2:p.Val21Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.61G>A
  hgvsp: ENSP00000443273.1:p.Val21Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.61G>A
  hgvsp: ENSP00000233627.9:p.Val21Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.51G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.151G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.288G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.84G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.313G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30058
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val21Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

19-1388533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388533
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388533
    reference: chr 19
allele count: 1
allele frequency: 8.878156184523599e-6
allele num: 112636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.153G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.315G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.63G>C
  hgvsp: ENST00000546283.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.63G>C
  hgvsp: ENST00000414651.2:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.58G>C
  hgvsp: ENSP00000442822.1:p.Gly20Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.290G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.63G>C
  hgvsp: ENST00000313408.7:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.86G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.113G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.63G>C
  hgvsp: ENST00000233627.9:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.106G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.90G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.314G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.53G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.63G>C
  hgvsp: ENST00000539480.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*59G>C
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly20Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-1388536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388536
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388536
    reference: chr 19
allele count: 1
allele frequency: 8.855042946958292e-6
allele num: 112930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.156C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.56C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.116C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.89C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.66C>T
  hgvsp: ENST00000414651.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.61C>T
  hgvsp: ENSP00000442822.1:p.Pro21Ser
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.293C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.66C>T
  hgvsp: ENST00000539480.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.66C>T
  hgvsp: ENST00000233627.9:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.93C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.109C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*62C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.66C>T
  hgvsp: ENST00000313408.7:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.66C>T
  hgvsp: ENST00000546283.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.318C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.317C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro21Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

19-1388538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388538
    reference: chr 19
allele count: 64111
allele frequency: 5.50214555441126e-1
allele num: 116520
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.91C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.158C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.95C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.111C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.68C>T
  hgvsp: ENSP00000440348.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.68C>T
  hgvsp: ENSP00000364262.5:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.63C>T
  hgvsp: ENST00000534853.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.68C>T
  hgvsp: ENSP00000406630.2:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*64C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.68C>T
  hgvsp: ENSP00000233627.9:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.319C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.118C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.68C>T
  hgvsp: ENSP00000443273.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.320C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.58C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.295C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 907
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 6.75e1
  variant carriers: 1649
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.75e1
  variant carriers: 5070
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 3.25e1
  variant carriers: 4976
genotype quality: GenotypeQuality
hgvs: p.Pro23Leu
num of homozygotes: 17944
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-1388539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388539
    reference: chr 19
allele count: 1
allele frequency: 8.724785370279891e-6
allele num: 114616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.92G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.69G>A
  hgvsp: ENST00000546283.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.69G>A
  hgvsp: ENST00000414651.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.59G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.321G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.96G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.64G>A
  hgvsp: ENSP00000442822.1:p.Gly22Ser
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.119G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.69G>A
  hgvsp: ENST00000233627.9:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.69G>A
  hgvsp: ENST00000313408.7:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.112G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.296G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.69G>A
  hgvsp: ENST00000539480.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.159G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*65G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.320G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly22Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1388543-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388543
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388543
    reference: chr 19
allele count: 5
allele frequency: 4.369941792375326e-5
allele num: 114418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.116G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.73G>C
  hgvsp: ENSP00000406630.2:p.Val25Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.163G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.73G>C
  hgvsp: ENSP00000440348.1:p.Val25Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.96G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.123G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.325G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.73G>C
  hgvsp: ENSP00000233627.9:p.Val25Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.68G>C
  hgvsp: ENSP00000442822.1:p.Cys23Ser
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.63G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.324G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.73G>C
  hgvsp: ENSP00000364262.5:p.Val25Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*69G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.73G>C
  hgvsp: ENSP00000443273.1:p.Val25Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.100G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.300G>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val25Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1388553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388553
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388553
    reference: chr 19
allele count: 2
allele frequency: 1.755094160801727e-5
allele num: 113954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.83G>A
  hgvsp: ENSP00000233627.9:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.126G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.78G>A
  hgvsp: ENST00000534853.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.173G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.83G>A
  hgvsp: ENSP00000443273.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.83G>A
  hgvsp: ENSP00000406630.2:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.83G>A
  hgvsp: ENSP00000364262.5:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.334G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.133G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.110G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.83G>A
  hgvsp: ENSP00000440348.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*79G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.310G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.106G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.73G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.335G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg28Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-1388553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388553
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388553
    reference: chr 19
allele count: 1
allele frequency: 8.775470804008634e-6
allele num: 113954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.126G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.83G>C
  hgvsp: ENSP00000440348.1:p.Arg28Pro
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.83G>C
  hgvsp: ENSP00000364262.5:p.Arg28Pro
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.110G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.133G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.83G>C
  hgvsp: ENSP00000233627.9:p.Arg28Pro
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.173G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.106G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.310G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.335G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*79G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.334G>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.78G>C
  hgvsp: ENST00000534853.1:c.78G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.83G>C
  hgvsp: ENSP00000406630.2:p.Arg28Pro
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.83G>C
  hgvsp: ENSP00000443273.1:p.Arg28Pro
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.73G>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg28Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-1388556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388556
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388556
    reference: chr 19
allele count: 12
allele frequency: 1.056133495273803e-4
allele num: 113622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.136G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.86G>T
  hgvsp: ENSP00000406630.2:p.Gly29Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.86G>T
  hgvsp: ENSP00000233627.9:p.Gly29Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.81G>T
  hgvsp: ENSP00000442822.1:p.Arg27Ser
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.313G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.129G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*82G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.109G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.86G>T
  hgvsp: ENSP00000364262.5:p.Gly29Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.176G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.86G>T
  hgvsp: ENSP00000443273.1:p.Gly29Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.86G>T
  hgvsp: ENSP00000440348.1:p.Gly29Val
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.113G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.76G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.338G>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.337G>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly29Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

19-1388557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388557
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388557
    reference: chr 19
allele count: 1
allele frequency: 8.807158458394984e-6
allele num: 113544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.114T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*83T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.110T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.87T>C
  hgvsp: ENST00000414651.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.82T>C
  hgvsp: ENSP00000442822.1:p.Cys28Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.338T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.87T>C
  hgvsp: ENST00000313408.7:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.137T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.87T>C
  hgvsp: ENST00000546283.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.77T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.87T>C
  hgvsp: ENST00000233627.9:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.314T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.339T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.130T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.177T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.87T>C
  hgvsp: ENST00000539480.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys28Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-1388559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388559
    reference: chr 19
allele count: 1
allele frequency: 8.824100382965956e-6
allele num: 113326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.116T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.89T>C
  hgvsp: ENSP00000233627.9:p.Val30Ala
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.132T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*85T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.139T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.89T>C
  hgvsp: ENSP00000440348.1:p.Val30Ala
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.316T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.112T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.84T>C
  hgvsp: ENST00000534853.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.89T>C
  hgvsp: ENSP00000406630.2:p.Val30Ala
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.89T>C
  hgvsp: ENSP00000364262.5:p.Val30Ala
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.341T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.89T>C
  hgvsp: ENSP00000443273.1:p.Val30Ala
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.79T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.179T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.340T>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val30Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-1388560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388560
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388560
    reference: chr 19
allele count: 76
allele frequency: 6.71591672263264e-4
allele num: 113164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.80C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.90C>T
  hgvsp: ENST00000546283.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.140C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.90C>T
  hgvsp: ENST00000414651.2:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.342C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.317C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.90C>T
  hgvsp: ENST00000233627.9:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.85C>T
  hgvsp: ENSP00000442822.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.133C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.117C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.90C>T
  hgvsp: ENST00000539480.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*86C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.341C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.180C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.90C>T
  hgvsp: ENST00000313408.7:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.113C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro29Ser
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1388561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388561
    reference: chr 19
allele count: 1
allele frequency: 8.851750876323337e-6
allele num: 112972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*87C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.342C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.86C>T
  hgvsp: ENSP00000442822.1:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.81C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.91C>T
  hgvsp: ENSP00000443273.1:p.His31Tyr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.91C>T
  hgvsp: ENSP00000364262.5:p.His31Tyr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.91C>T
  hgvsp: ENSP00000406630.2:p.His31Tyr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.91C>T
  hgvsp: ENSP00000233627.9:p.His31Tyr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.114C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.91C>T
  hgvsp: ENSP00000440348.1:p.His31Tyr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.343C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.181C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.134C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.141C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.118C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.318C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His31Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1388569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388569
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388569
    reference: chr 19
allele count: 1
allele frequency: 8.963947005145306e-6
allele num: 111558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.99C>T
  hgvsp: ENST00000414651.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.142C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.99C>T
  hgvsp: ENST00000546283.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.149C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.99C>T
  hgvsp: ENST00000539480.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.126C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.99C>T
  hgvsp: ENST00000313408.7:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.94C>T
  hgvsp: ENSP00000442822.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.89C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.350C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.99C>T
  hgvsp: ENST00000233627.9:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.326C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.351C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.122C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*95C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.189C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg32Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-1388570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388570
    reference: chr 19
allele count: 1
allele frequency: 8.965072079179517e-6
allele num: 111544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.352G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.90G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.150G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.100G>A
  hgvsp: ENSP00000364262.5:p.Val34Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.95G>A
  hgvsp: ENSP00000442822.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.190G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.127G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.143G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*96G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.351G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.100G>A
  hgvsp: ENSP00000233627.9:p.Val34Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.100G>A
  hgvsp: ENSP00000440348.1:p.Val34Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.100G>A
  hgvsp: ENSP00000443273.1:p.Val34Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.123G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.100G>A
  hgvsp: ENSP00000406630.2:p.Val34Met
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.327G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1388573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388573
    reference: chr 19
allele count: 1
allele frequency: 9.015506671474937e-6
allele num: 110920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.103G>A
  hgvsp: ENSP00000406630.2:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.103G>A
  hgvsp: ENSP00000440348.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.330G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.98G>A
  hgvsp: ENSP00000442822.1:p.Gly33Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.126G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.354G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*99G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.103G>A
  hgvsp: ENSP00000364262.5:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.103G>A
  hgvsp: ENSP00000443273.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.103G>A
  hgvsp: ENSP00000233627.9:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.130G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.146G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.193G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.153G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.355G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.93G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala35Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-1388578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388578
    reference: chr 19
allele count: 2
allele frequency: 1.809790969143064e-5
allele num: 110510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.108C>T
  hgvsp: ENST00000539480.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.108C>T
  hgvsp: ENST00000313408.7:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.151C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.335C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.158C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.103C>T
  hgvsp: ENSP00000442822.1:p.Arg35Ter
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.108C>T
  hgvsp: ENST00000233627.9:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.108C>T
  hgvsp: ENST00000414651.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.135C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.131C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.359C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.98C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.198C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.360C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*104C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.108C>T
  hgvsp: ENST00000546283.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-1388579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388579
    reference: chr 19
allele count: 1
allele frequency: 9.065032543466832e-6
allele num: 110314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*105G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.152G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.109G>A
  hgvsp: ENSP00000440348.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.104G>A
  hgvsp: ENSP00000442822.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.361G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.109G>A
  hgvsp: ENSP00000443273.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.199G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.109G>A
  hgvsp: ENSP00000233627.9:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.159G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.360G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.109G>A
  hgvsp: ENSP00000406630.2:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.136G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.336G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.109G>A
  hgvsp: ENSP00000364262.5:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.99G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.132G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22456
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp37Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-1388583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388583
    reference: chr 19
allele count: 1
allele frequency: 9.114607069289243e-6
allele num: 109714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.365G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.113G>A
  hgvsp: ENSP00000233627.9:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.364G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.103G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.140G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.108G>A
  hgvsp: ENSP00000442822.1:p.Trp36Ter
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.113G>A
  hgvsp: ENSP00000406630.2:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.113G>A
  hgvsp: ENSP00000440348.1:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.136G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.113G>A
  hgvsp: ENSP00000364262.5:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.113G>A
  hgvsp: ENSP00000443273.1:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.340G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.163G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*109G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.156G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.203G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp36Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-1388586-CAAGCAGGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388577
    reference: chr 19
allele count: 1
allele frequency: 9.174143593695528e-6
allele num: 109002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.372_380delAGGTGAAGC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.164_172delAGGTGAAGC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.348_356delAGGTGAAGC
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.121_122+7delAGGTGAAGC
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: CAAGCAGGTG
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-1388588-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388588
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388588
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 108160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.118A>C
  hgvsp: ENSP00000364262.5:p.Ser40Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.370A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*114A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.118A>C
  hgvsp: ENSP00000233627.9:p.Ser40Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.108A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.118A>C
  hgvsp: ENSP00000406630.2:p.Ser40Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.118A>C
  hgvsp: ENSP00000443273.1:p.Ser40Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.208A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.141A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.161A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.118A>C
  hgvsp: ENSP00000440348.1:p.Ser40Arg
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.113A>C
  hgvsp: ENSP00000442822.1:p.Lys38Thr
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.369A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.168A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.345A>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.145A>C
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser40Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-1388598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388598
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388598
    reference: chr 19
allele count: 4
allele frequency: 3.829876869458647e-5
allele num: 104442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.355G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.379G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.171G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+6G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+6G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.122+6G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-1388602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388602
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388602
    reference: chr 19
allele count: 1
allele frequency: 9.832841691248771e-6
allele num: 101700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.359G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.175G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.383G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+10G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+10G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-1388615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388615
    reference: chr 19
allele count: 2
allele frequency: 2.225288174818639e-5
allele num: 89876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.188G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.396G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.372G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+23G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+23G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-1388617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388617
    reference: chr 19
allele count: 2
allele frequency: 2.471760140395976e-5
allele num: 80914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.374T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.190T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.398T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+25T>C
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+25T>C
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-1388618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388618
    reference: chr 19
allele count: 4
allele frequency: 4.95589255624938e-5
allele num: 80712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.191C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.375C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.399C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+26C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+26C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1388621-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388621
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388622
    reference: chr 19
allele count: 1
allele frequency: 1.271294177472667e-5
allele num: 78660
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.407dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.199dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.383dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+34dupC
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+34dupC
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-1388623-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388623
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388623
    reference: chr 19
allele count: 1
allele frequency: 1.30133777523294e-5
allele num: 76844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.196C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.404C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.380C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+31C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+31C>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-1388628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388628
    reference: chr 19
allele count: 53
allele frequency: 7.362338167472357e-4
allele num: 71988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.409C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.201C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.385C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+36C>T
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+36C>T
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20818
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

19-1388629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388629
    reference: chr 19
allele count: 1
allele frequency: 1.40044253984259e-5
allele num: 71406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.202G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.410G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.386G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+37G>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+37G>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-1388630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388630
    reference: chr 19
allele count: 1
allele frequency: 1.437442502299908e-5
allele num: 69568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.203C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.387C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.411C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+38C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+38C>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-1388635-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388635
    reference: chr 19
allele count: 2
allele frequency: 3.067014261616316e-5
allele num: 65210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.392C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.416C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.208C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+43C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+43C>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-1388642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1388642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1388642
    reference: chr 19
allele count: 1
allele frequency: 1.729026903658621e-5
allele num: 57836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000535382
  gene symbol: NDUFS7
  hgvsc: ENST00000535382.1:n.374+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000440348
  ensembl transcript: ENST00000546283
  gene symbol: NDUFS7
  hgvsc: ENST00000546283.1:c.122+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000364262
  ensembl transcript: ENST00000313408
  gene symbol: NDUFS7
  hgvsc: ENST00000313408.7:c.122+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538662
  gene symbol: NDUFS7
  hgvsc: ENST00000538662.1:n.149+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000545446
  gene symbol: NDUFS7
  hgvsc: ENST00000545446.1:n.215C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000436115
  gene symbol: NDUFS7
  hgvsc: ENST00000436115.2:n.145+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538929
  gene symbol: NDUFS7
  hgvsc: ENST00000538929.1:n.212+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000233627
  ensembl transcript: ENST00000233627
  gene symbol: NDUFS7
  hgvsc: ENST00000233627.9:c.122+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000539882
  gene symbol: NDUFS7
  hgvsc: ENST00000539882.1:n.399C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000538523
  gene symbol: NDUFS7
  hgvsc: ENST00000538523.1:n.172+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000406630
  ensembl transcript: ENST00000414651
  gene symbol: NDUFS7
  hgvsc: ENST00000414651.2:c.122+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000543289
  gene symbol: NDUFS7
  hgvsc: ENST00000543289.1:n.423C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000467094
  ensembl transcript: ENST00000546172
  gene symbol: NDUFS7
  hgvsc: ENST00000546172.3:c.*118+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000442822
  ensembl transcript: ENST00000534853
  gene symbol: NDUFS7
  hgvsc: ENST00000534853.1:c.117+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl transcript: ENST00000540530
  gene symbol: NDUFS7
  hgvsc: ENST00000540530.1:n.112+50C>A
  variant of: http://identifiers.org/hgnc/7714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115286
  ensembl protein: ENSP00000443273
  ensembl transcript: ENST00000539480
  gene symbol: NDUFS7
  hgvsc: ENST00000539480.1:c.122+50C>A
  variant of: http://identifiers.org/hgnc/7714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 1235
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1201
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17024
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6143
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2071
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001201441730076e-4
allele num: 9988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.081983430196612e-4
allele num: 64696
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 9.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 1.856094e6

FS
type: SiteQuality
SIO_000300: 1.982e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeDepth
all individuals: 13917
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17031
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -2.722e0

FS
type: SiteQuality
SIO_000300: 2.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.855705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.387e0

QD
type: SiteQuality
SIO_000300: 8.85e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.78e1

GenotypeDepth
all individuals: 241
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6146
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1233
bin: 4.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele frequency: 1.394743367220432e-4
allele num: 64528
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8504
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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allele frequency: 6.144015728680265e-5
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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QD
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.216392627358344e-5
allele num: 64346
num of homozygotes: 0

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

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

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

East Asian
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allele num: 8480
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.718019689868839e-5
allele num: 63586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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FS
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SIO_000300: 1.18e0

InbreedingCoeff
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SIO_000300: -4.3e-3

BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.572376489826724e-5
allele num: 63598
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11236
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

African
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allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.98e-1

FS
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SIO_000300: 4.363e0

BaseQRankSum
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MQRankSum
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QD
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DP
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SIO_000300: 1.692308e6

InbreedingCoeff
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SIO_000300: -3.8e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.286338690065398e-5
allele num: 60858
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

BaseQRankSum
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SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.621e0

MQ
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SIO_000300: 5.936e1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -2.51e-1

QD
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SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 1.461762e6

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.697101350892675e-5
allele num: 58924
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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MQRankSum
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SIO_000300: -9.29e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.453e1

ClippingRankSum
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SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
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SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 13
allele frequency: 2.206231756160478e-4
allele num: 58924
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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European (Finnish)
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South Asian
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4081
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variant carriers: 4

GenotypeQuality
all individuals: 3424
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.168458781362007e-4
allele num: 2790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.313727114572115e-4
allele num: 48284
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.538461538461539e-4
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.787928221859706e-4
allele num: 6130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.128599942971201e-5
allele num: 14028
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.262443438914027e-4
allele num: 8840
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.655629139072848e-3
allele num: 604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.263999999999999e0

FS
type: SiteQuality
SIO_000300: 3.7564e1

DP
type: SiteQuality
SIO_000300: 1.103511e6

QD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

GenotypeDepth
all individuals: 588
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 929
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variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.478929102627665e-4
allele num: 4034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54230
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.096e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.226194e6

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1581
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 7.433102081268583e-4
allele num: 4036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.152815406018892e-5
allele num: 54628
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.92049164586134e-4
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15090
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 1.268401e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.506e2

FS
type: SiteQuality
SIO_000300: 4.05447e2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7629
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 3118
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GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15146
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.267748478701826e-4
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.342e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

DP
type: SiteQuality
SIO_000300: 1.292689e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 943
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 340
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GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.527415143603133e-5
allele num: 15320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.503e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 1.87e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 362
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.723305990211622e-5
allele num: 58028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 2.246e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.360918e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

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

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

European (Non-Finnish)
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allele frequency: 5.090267408714538e-5
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

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

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

QD
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 4.6e-3

FS
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SIO_000300: 6.14e-1

DP
type: SiteQuality
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58936
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

African
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allele num: 8430
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: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 6.14e-1

MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 6

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

Latino
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allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.690674240887266e-5
allele num: 59148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 82
allele frequency: 5.259781911481719e-3
allele num: 15590
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -3.0e-3

VQSLOD
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MQRankSum
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MQ
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FS
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DP
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ClippingRankSum
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SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
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SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 6
allele frequency: 1.012453174040701e-4
allele num: 59262
num of homozygotes: 0

East Asian
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allele num: 8114
num of homozygotes: 0

Latino
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allele num: 10924
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.429575814389501e-2
allele num: 8534
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South Asian
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allele num: 15630
num of homozygotes: 0

Other
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 9.145783793671118e-5
allele num: 10934
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59498
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Other
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South Asian
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African
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allele frequency: 8.116883116883117e-4
allele num: 8624
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VQSLOD
type: SiteQuality
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59782
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.148897058823529e-4
allele num: 8704
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East Asian
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.626280696048138e-5
allele num: 61490
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.885e-1

FS
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MQRankSum
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SIO_000300: 4.42e-1

BaseQRankSum
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SIO_000300: -1.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.468982e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 2.748e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61670
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
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SIO_000300: -5.96e-1

VQSLOD
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SIO_000300: -1.969e0

BaseQRankSum
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SIO_000300: -9.6e-1

ClippingRankSum
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SIO_000300: 5.24e-1

InbreedingCoeff
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SIO_000300: -1.8e-3

QD
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SIO_000300: 1.592e1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.474694e6

MQ
type: SiteQuality
SIO_000300: 5.824e1

GenotypeDepth
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variant carriers: 3510

GenotypeDepth
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GenotypeDepth
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variant carriers: 715

GenotypeDepth
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variant carriers: 1492

GenotypeDepth
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variant carriers: 2895

GenotypeDepth
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variant carriers: 670

GenotypeDepth
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variant carriers: 2347

GenotypeDepth
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variant carriers: 4780

GenotypeDepth
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variant carriers: 3556

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2150

GenotypeDepth
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GenotypeDepth
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variant carriers: 1259

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 40

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 190

GenotypeQuality
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variant carriers: 39126

GenotypeQuality
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variant carriers: 858

European (Finnish)
type: Population
allele count: 3172
allele frequency: 5.299031072502506e-1
allele num: 5986
num of homozygotes: 804

East Asian
type: Population
allele count: 2566
allele frequency: 3.043890865954923e-1
allele num: 8430
num of homozygotes: 401

Latino
type: Population
allele count: 5736
allele frequency: 5.062665489849956e-1
allele num: 11330
num of homozygotes: 1439

European (Non-Finnish)
type: Population
allele count: 38916
allele frequency: 6.089187920513222e-1
allele num: 63910
num of homozygotes: 11720

Other
type: Population
allele count: 475
allele frequency: 5.654761904761905e-1
allele num: 840
num of homozygotes: 132

African
type: Population
allele count: 3727
allele frequency: 3.874220374220374e-1
allele num: 9620
num of homozygotes: 688

South Asian
type: Population
allele count: 9519
allele frequency: 5.802852962692027e-1
allele num: 16404
num of homozygotes: 2760

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

QD
type: SiteQuality
SIO_000300: 1.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 2.370434e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.27e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 2626
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GenotypeDepth
all individuals: 6
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GenotypeDepth
all individuals: 23
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 655
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591849729385546e-5
allele num: 62820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
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SIO_000300: 1.54e0

DP
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SIO_000300: 1.508343e6

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
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SIO_000300: 2.9e-3

QD
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VQSLOD
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SIO_000300: -1.859e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
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SIO_000300: -2.049e0

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

African
type: Population
allele count: 5
allele frequency: 5.306728932286138e-4
allele num: 9422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62712
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 2.9e-3

BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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SIO_000300: -1.2e-1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

Other
type: Population
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.242544731610338e-4
allele num: 16096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.1e-3

ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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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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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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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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600922131147541e-5
allele num: 62464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 1.746e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

DP
type: SiteQuality
SIO_000300: 1.49567e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeDepth
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bin: 4.25e1
variant carriers: 3

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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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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
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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
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 12

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
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.075076151227379e-3
allele num: 11162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.489347e6

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.064e0

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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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
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 38052
bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606735434943282e-5
allele num: 62238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.519e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 3.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 2.736e1

DP
type: SiteQuality
SIO_000300: 1.488639e6

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 269
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609062238527386e-5
allele num: 62148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.484039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -9.364e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.848e1

GenotypeDepth
all individuals: 6
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variant carriers: 1

GenotypeDepth
all individuals: 12
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variant carriers: 5

GenotypeDepth
all individuals: 1353
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 797
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GenotypeQuality
all individuals: 37436
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variant carriers: 0

East Asian
type: Population
allele count: 34
allele frequency: 4.047619047619047e-3
allele num: 8400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 9.154155986818016e-4
allele num: 5462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.880641925777332e-4
allele num: 15952
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.157131345688961e-4
allele num: 62050
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.475247524752475e-3
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.48236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
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SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614569878584345e-5
allele num: 61936
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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Latino
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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European (Finnish)
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: 2.48e-1

BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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Other
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num of homozygotes: 0

Latino
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South Asian
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African
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allele frequency: 4.600874166091557e-4
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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variant carriers: 0

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

Other
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allele count: 1
allele frequency: 1.694915254237288e-3
allele num: 590
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12696
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 1.372872048325096e-4
allele num: 7284
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44400
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

DP
type: SiteQuality
SIO_000300: 9.52648e5

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.049e0

ReadPosRankSum
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SIO_000300: 7.96e-1

BaseQRankSum
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SIO_000300: 2.39e0

MQRankSum
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SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
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GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 2.953337271116361e-4
allele num: 6772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44326
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.579279848389134e-4
allele num: 12664
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.851e1

MQRankSum
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DP
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SIO_000300: 9.50667e5

FS
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.06e-1

BaseQRankSum
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QD
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SIO_000300: 1.059e1

InbreedingCoeff
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SIO_000300: -6.1e-3

ReadPosRankSum
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SIO_000300: 1.84e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.315994256334244e-5
allele num: 43178
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 2.869e0

DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -9.79e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.571e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

MQ
type: SiteQuality
SIO_000300: 6.134e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.470155836518671e-4
allele num: 6802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 1.34e0

VQSLOD
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QD
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SIO_000300: 5.45e0

FS
type: SiteQuality
SIO_000300: 2.688e0

InbreedingCoeff
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SIO_000300: -7.7e-3

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 9.00662e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 1
allele frequency: 8.362602441879912e-5
allele num: 11958
num of homozygotes: 0

Latino
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allele count: 10
allele frequency: 1.603592046183451e-3
allele num: 6236
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 42
allele frequency: 1.071647274954072e-3
allele num: 39192
num of homozygotes: 0

Other
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allele count: 0
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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Other
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African
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South Asian
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FS
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DP
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.647183396865735e-5
allele num: 37776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.255e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 8.13569e5

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

GenotypeDepth
all individuals: 4653
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2843
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4886
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.681495369581274e-5
allele num: 35202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.73376e5

FS
type: SiteQuality
SIO_000300: 2.822e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

GenotypeDepth
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24317
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1441
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3303
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35976
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5554
bin: 6.25e1
variant carriers: 0