18-43674991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674991
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674991
    reference: chr 18
allele count: 5
allele frequency: 4.416336913510458e-5
allele num: 113216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.231G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.167G>A
  hgvsp: ENSP00000466309.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.232G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+28G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+28G>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42606
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg56His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

18-43674992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674992
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674992
    reference: chr 18
allele count: 2
allele frequency: 1.751037489712655e-5
allele num: 114218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.166C>T
  hgvsp: ENSP00000466309.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.231C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.230C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+27C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg56Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

18-43674992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674992
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674992
    reference: chr 18
allele count: 11
allele frequency: 9.630706193419601e-5
allele num: 114218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.166C>G
  hgvsp: ENSP00000466309.1:p.Arg56Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.231C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.230C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+27C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+27C>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg56Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

18-43674993-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674993
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674993
    reference: chr 18
allele count: 4
allele frequency: 3.485838779956427e-5
allele num: 114750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.229C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.165C>A
  hgvsp: ENST00000590156.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.230C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+26C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+26C>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43674994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
allele count: 1
allele frequency: 8.684324793747287e-6
allele num: 115150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.228G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.164G>T
  hgvsp: ENSP00000466309.1:p.Arg55Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.229G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+25G>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

18-43674994-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
allele count: 8
allele frequency: 6.947459834997829e-5
allele num: 115150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.228G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.229G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.164G>C
  hgvsp: ENSP00000466309.1:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+25G>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43104
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

18-43674994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674994
    reference: chr 18
allele count: 4
allele frequency: 3.473729917498915e-5
allele num: 115150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.229G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.228G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.164G>A
  hgvsp: ENSP00000466309.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+25G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+25G>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

18-43674995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674995
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674995
    reference: chr 18
allele count: 2
allele frequency: 1.727145546555208e-5
allele num: 115798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.228C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.163C>T
  hgvsp: ENSP00000466309.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.227C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+24C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-43674995-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43674995
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43674995
    reference: chr 18
allele count: 1
allele frequency: 8.635727732776041e-6
allele num: 115798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.228C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.227C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.163C>G
  hgvsp: ENSP00000466309.1:p.Arg55Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+24C>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

18-43675000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675000
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675000
    reference: chr 18
allele count: 1
allele frequency: 8.494877588813945e-6
allele num: 117718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.223G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.158G>A
  hgvsp: ENSP00000466309.1:p.Ser53Asn
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.222G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+19G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+19G>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser53Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/18-43675003-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675003
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675003
    reference: chr 18
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.219T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.155T>G
  hgvsp: ENSP00000466309.1:p.Leu52Arg
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.220T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+16T>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu52Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

18-43675004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675004
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675004
    reference: chr 18
allele count: 1
allele frequency: 8.426303549159055e-6
allele num: 118676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.154C>G
  hgvsp: ENSP00000466309.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.218C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.219C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+15C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+15C>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu52Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

18-43675011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675011
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675011
    reference: chr 18
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.211A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.212A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+8A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.147A>G
  hgvsp: ENST00000590156.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.139+8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

18-43675015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675015
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675015
    reference: chr 18
allele count: 1
allele frequency: 8.335278231587371e-6
allele num: 119972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.207A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.143A>G
  hgvsp: ENSP00000466309.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.208A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+4A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+4A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys48Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

18-43675016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675016
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675016
    reference: chr 18
allele count: 1
allele frequency: 8.329862557267805e-6
allele num: 120050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.117+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.196+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.207A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-12+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-198+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*20+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.142A>G
  hgvsp: ENSP00000466309.1:p.Lys48Glu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-12+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.206A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-12+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*202+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys48Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

18-43675026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675026
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675026
    reference: chr 18
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.132A>G
  hgvsp: ENST00000589252.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.132A>G
  hgvsp: ENST00000592364.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-205A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.110A>G
  hgvsp: ENSP00000467983.1:p.Lys37Arg
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.132A>G
  hgvsp: ENST00000282050.2:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.132A>G
  hgvsp: ENST00000590156.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.132A>G
  hgvsp: ENST00000398752.6:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.132A>G
  hgvsp: ENST00000590665.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.189A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.196A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.132A>G
  hgvsp: ENST00000590406.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*195A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-19A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.197A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys37Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-43675031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675031
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675031
    reference: chr 18
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*190C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.127C>T
  hgvsp: ENSP00000282050.2:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.184C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.127C>T
  hgvsp: ENSP00000468618.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.127C>T
  hgvsp: ENSP00000466975.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.127C>T
  hgvsp: ENSP00000468458.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.105C>T
  hgvsp: ENST00000585650.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.191C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.192C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.127C>T
  hgvsp: ENSP00000381736.5:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.127C>T
  hgvsp: ENSP00000466309.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.127C>T
  hgvsp: ENSP00000467037.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-210C>T
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu43Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-43675036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675036
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675036
    reference: chr 18
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.122C>G
  hgvsp: ENSP00000467037.1:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.122C>G
  hgvsp: ENSP00000468458.1:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*185C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.122C>G
  hgvsp: ENSP00000466309.1:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.122C>G
  hgvsp: ENSP00000381736.5:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.100C>G
  hgvsp: ENSP00000467983.1:p.Leu34Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.179C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.186C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.122C>G
  hgvsp: ENSP00000282050.2:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.187C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.122C>G
  hgvsp: ENSP00000466975.1:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.122C>G
  hgvsp: ENSP00000468618.1:p.Thr41Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-215C>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr41Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-43675042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675042
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675042
    reference: chr 18
allele count: 5
allele frequency: 4.127523980914329e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.116C>G
  hgvsp: ENSP00000466975.1:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.132C>G
  hgvsp: ENST00000591981.1:c.132C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.116C>G
  hgvsp: ENSP00000466309.1:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-221C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*179C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.116C>G
  hgvsp: ENSP00000468458.1:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.94C>G
  hgvsp: ENSP00000467983.1:p.Leu32Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.116C>G
  hgvsp: ENSP00000282050.2:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.116C>G
  hgvsp: ENSP00000467037.1:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.180C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.173C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.181C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.116C>G
  hgvsp: ENSP00000468618.1:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.116C>G
  hgvsp: ENSP00000381736.5:p.Ser39Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-35C>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser39Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

18-43675044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675044
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675044
    reference: chr 18
allele count: 3
allele frequency: 2.47618733182561e-5
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.171C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-37C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-223C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.114C>T
  hgvsp: ENST00000398752.6:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.92C>T
  hgvsp: ENSP00000467983.1:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.114C>T
  hgvsp: ENST00000592364.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.114C>T
  hgvsp: ENST00000590406.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.130C>T
  hgvsp: ENSP00000465805.2:p.Leu44Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.114C>T
  hgvsp: ENST00000589252.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.114C>T
  hgvsp: ENST00000282050.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.114C>T
  hgvsp: ENST00000590665.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.179C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.178C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.114C>T
  hgvsp: ENST00000590156.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu44Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

18-43675046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675046
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675046
    reference: chr 18
allele count: 10
allele frequency: 8.253140319891719e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.112G>A
  hgvsp: ENSP00000466309.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.177G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.112G>A
  hgvsp: ENSP00000282050.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.112G>A
  hgvsp: ENSP00000468618.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.112G>A
  hgvsp: ENSP00000468458.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.128G>A
  hgvsp: ENSP00000465805.2:p.Cys43Tyr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*175G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.90G>A
  hgvsp: ENSP00000467983.1:p.Met30Ile
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.169G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.112G>A
  hgvsp: ENSP00000466975.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.112G>A
  hgvsp: ENSP00000467037.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.112G>A
  hgvsp: ENSP00000381736.5:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-39G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.176G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43675046-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675046
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675046
    reference: chr 18
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.112G>T
  hgvsp: ENSP00000467037.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-39G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.112G>T
  hgvsp: ENSP00000468618.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.112G>T
  hgvsp: ENSP00000468458.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.90G>T
  hgvsp: ENSP00000467983.1:p.Met30Ile
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.177G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-225G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.128G>T
  hgvsp: ENSP00000465805.2:p.Cys43Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*175G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.176G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.112G>T
  hgvsp: ENSP00000466975.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.112G>T
  hgvsp: ENSP00000282050.2:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.112G>T
  hgvsp: ENSP00000466309.1:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.112G>T
  hgvsp: ENSP00000381736.5:p.Ala38Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-39G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-39G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.169G>T
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-43675058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675058
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675058
    reference: chr 18
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.78A>G
  hgvsp: ENST00000585650.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.100A>G
  hgvsp: ENSP00000381736.5:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.164A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.100A>G
  hgvsp: ENSP00000468618.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.100A>G
  hgvsp: ENSP00000467037.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.100A>G
  hgvsp: ENSP00000468458.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.100A>G
  hgvsp: ENSP00000466975.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.116A>G
  hgvsp: ENSP00000465805.2:p.Lys39Arg
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.100A>G
  hgvsp: ENSP00000466309.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-51A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-51A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.157A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.165A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.100A>G
  hgvsp: ENSP00000282050.2:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-51A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-237A>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg34Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/18-43675064-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675064
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675064
    reference: chr 18
allele count: 884
allele frequency: 7.294933157286681e-3
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.151G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.159G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-243G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.94G>T
  hgvsp: ENSP00000381736.5:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.94G>T
  hgvsp: ENSP00000467037.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.94G>T
  hgvsp: ENSP00000466309.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-57G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-57G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.158G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.72G>T
  hgvsp: ENSP00000467983.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.110G>T
  hgvsp: ENSP00000465805.2:p.Cys37Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.94G>T
  hgvsp: ENSP00000282050.2:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*157G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.94G>T
  hgvsp: ENSP00000468458.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-57G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.94G>T
  hgvsp: ENSP00000466975.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.94G>T
  hgvsp: ENSP00000468618.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala32Ser
num of homozygotes: 30
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

18-43675068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675068
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675068
    reference: chr 18
allele count: 8
allele frequency: 6.604038369462926e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.155C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-247C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-61C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.90C>G
  hgvsp: ENSP00000468458.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.68C>G
  hgvsp: ENSP00000467983.1:p.Ser23Ter
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.90C>G
  hgvsp: ENSP00000467037.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.90C>G
  hgvsp: ENSP00000381736.5:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.90C>G
  hgvsp: ENSP00000282050.2:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.147C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.90C>G
  hgvsp: ENSP00000466309.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.106C>G
  hgvsp: ENSP00000465805.2:p.His36Asp
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.154C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.90C>G
  hgvsp: ENSP00000468618.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-61C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-61C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.90C>G
  hgvsp: ENSP00000466975.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*153C>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser23Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

18-43675070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675070
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675070
    reference: chr 18
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.88T>C
  hgvsp: ENSP00000466975.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.153T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.66T>C
  hgvsp: ENST00000585650.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.88T>C
  hgvsp: ENSP00000466309.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.104T>C
  hgvsp: ENSP00000465805.2:p.Phe35Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*151T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.145T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.88T>C
  hgvsp: ENSP00000468458.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.88T>C
  hgvsp: ENSP00000467037.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.88T>C
  hgvsp: ENSP00000381736.5:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.88T>C
  hgvsp: ENSP00000468618.1:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-63T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-63T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-63T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.152T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.88T>C
  hgvsp: ENSP00000282050.2:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-249T>C
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe30Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

18-43675073-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675073
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675073
    reference: chr 18
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-66T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.85T>C
  hgvsp: ENSP00000466309.1:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*148T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.63T>C
  hgvsp: ENST00000585650.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.85T>C
  hgvsp: ENSP00000468618.1:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.85T>C
  hgvsp: ENSP00000467037.1:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.142T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.85T>C
  hgvsp: ENSP00000282050.2:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-66T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.85T>C
  hgvsp: ENSP00000381736.5:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.149T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.101T>C
  hgvsp: ENSP00000465805.2:p.Ile34Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-252T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.85T>C
  hgvsp: ENSP00000468458.1:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.150T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-66T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.85T>C
  hgvsp: ENSP00000466975.1:p.Ser29Pro
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser29Pro
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

18-43675075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675075
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675075
    reference: chr 18
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.99C>T
  hgvsp: ENST00000591981.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.83C>T
  hgvsp: ENSP00000467037.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.83C>T
  hgvsp: ENSP00000282050.2:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.83C>T
  hgvsp: ENSP00000466309.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.83C>T
  hgvsp: ENSP00000466975.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.83C>T
  hgvsp: ENSP00000468618.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-254C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-68C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.148C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.83C>T
  hgvsp: ENSP00000381736.5:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.61C>T
  hgvsp: ENSP00000467983.1:p.His21Tyr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.83C>T
  hgvsp: ENSP00000468458.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.140C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.147C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser28Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-43675078-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675078
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675078
    reference: chr 18
allele count: 2
allele frequency: 1.652728655009421e-5
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.80G>T
  hgvsp: ENSP00000466309.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-257G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.144G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.96G>T
  hgvsp: ENST00000591981.1:c.96G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-71G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.80G>T
  hgvsp: ENSP00000282050.2:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-71G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.80G>T
  hgvsp: ENSP00000467037.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.80G>T
  hgvsp: ENSP00000468458.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.145G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.80G>T
  hgvsp: ENSP00000466975.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*143G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.58G>T
  hgvsp: ENSP00000467983.1:p.Val20Phe
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.80G>T
  hgvsp: ENSP00000381736.5:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-71G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.137G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.80G>T
  hgvsp: ENSP00000468618.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Val
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

18-43675079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675079
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675079
    reference: chr 18
allele count: 12
allele frequency: 9.917519297839634e-5
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-258G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*142G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.95G>A
  hgvsp: ENSP00000465805.2:p.Gly32Glu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-72G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-72G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.57G>A
  hgvsp: ENSP00000467983.1:p.Trp19Ter
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.136G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.144G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.79G>A
  hgvsp: ENSP00000466309.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.79G>A
  hgvsp: ENSP00000467037.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.79G>A
  hgvsp: ENSP00000282050.2:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.79G>A
  hgvsp: ENSP00000468458.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.79G>A
  hgvsp: ENSP00000381736.5:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.143G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.79G>A
  hgvsp: ENSP00000466975.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-72G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.79G>A
  hgvsp: ENSP00000468618.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp19Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-43675082-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675082
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675082
    reference: chr 18
allele count: 2
allele frequency: 1.653439153439154e-5
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.92T>G
  hgvsp: ENSP00000465805.2:p.Phe31Cys
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.54T>G
  hgvsp: ENST00000585650.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.76T>G
  hgvsp: ENSP00000466309.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.133T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.76T>G
  hgvsp: ENSP00000468458.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-75T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.76T>G
  hgvsp: ENSP00000381736.5:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.76T>G
  hgvsp: ENSP00000467037.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-75T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-261T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.76T>G
  hgvsp: ENSP00000468618.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*139T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.141T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.76T>G
  hgvsp: ENSP00000466975.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.76T>G
  hgvsp: ENSP00000282050.2:p.Leu26Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-75T>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.140T>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu26Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

18-43675082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675082
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675082
    reference: chr 18
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.54T>C
  hgvsp: ENST00000585650.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.92T>C
  hgvsp: ENSP00000465805.2:p.Phe31Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.140T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-75T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.76T>C
  hgvsp: ENST00000592364.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.76T>C
  hgvsp: ENST00000590156.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.76T>C
  hgvsp: ENST00000398752.6:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.141T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.76T>C
  hgvsp: ENST00000590665.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.76T>C
  hgvsp: ENST00000590406.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.76T>C
  hgvsp: ENST00000589252.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-261T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.133T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*139T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.76T>C
  hgvsp: ENST00000282050.2:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe31Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

18-43675102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675102
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675102
    reference: chr 18
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-13A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.72A>G
  hgvsp: ENST00000591981.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-5A>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.61-5A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

18-43675112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675112
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675112
    reference: chr 18
allele count: 2
allele frequency: 1.709489375523531e-5
allele num: 116994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-23A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.62A>C
  hgvsp: ENSP00000465805.2:p.Asn21Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-15A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-15A>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn21Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

18-43675114-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675114
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675114
    reference: chr 18
allele count: 1
allele frequency: 8.553295584788819e-6
allele num: 116914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-1G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-25G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-17G>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.61-1G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

18-43675115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675115
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675115
    reference: chr 18
allele count: 1
allele frequency: 8.56971462850287e-6
allele num: 116690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-2A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-26A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-18A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-18A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.61-2A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

18-43675116-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675116
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675115
    reference: chr 18
allele count: 1
allele frequency: 8.58663918942126e-6
allele num: 116460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-4delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-28delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-20delT
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-20delT
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.61-4delT
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TA
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

18-43675122-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675122
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675122
    reference: chr 18
allele count: 1
allele frequency: 8.696408383337681e-6
allele num: 114990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-33A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-9A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-25A>C
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-43675123-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675123
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675123
    reference: chr 18
allele count: 3
allele frequency: 2.614606937423741e-5
allele num: 114740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-10A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-34A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-26A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-26A>C
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

18-43675125-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675125
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675125
    reference: chr 18
allele count: 3
allele frequency: 2.629964057157885e-5
allele num: 114070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-36C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-28C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-12C>A
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

18-43675126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675126
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675126
    reference: chr 18
allele count: 1
allele frequency: 8.802042073761113e-6
allele num: 113610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-37T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-13T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-29T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-29T>A
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

18-43675138-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675138
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675138
    reference: chr 18
allele count: 1
allele frequency: 9.017945711966814e-6
allele num: 110890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-49C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-25C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-41C>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-41C>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

18-43675140-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675140
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675139
    reference: chr 18
allele count: 17
allele frequency: 1.551434620719866e-4
allele num: 109576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-28delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-52delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-44delA
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-44delA
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: CT
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

18-43675145-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675145
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675145
    reference: chr 18
allele count: 1
allele frequency: 9.164558818138496e-6
allele num: 109116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-56A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-32A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-48A>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-48A>T
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

18-43675149-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675149
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675149
    reference: chr 18
allele count: 1
allele frequency: 9.24402373865296e-6
allele num: 108178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-36T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-60T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-52T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-52T>A
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

18-43675152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675152
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675152
    reference: chr 18
allele count: 24
allele frequency: 2.239265520909142e-4
allele num: 107178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-39A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-63A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-55A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-55A>G
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15095
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-43675158-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43675158
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43675158
    reference: chr 18
allele count: 1
allele frequency: 9.555113896957652e-6
allele num: 104656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-69G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.39-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-90-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.126-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.125-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*124-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.61-45G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.61-61G>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-61G>C
  variant of: http://identifiers.org/hgnc/823
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

18-43677887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43677887
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43677887
    reference: chr 18
allele count: 3
allele frequency: 1.5e-1
allele num: 20
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2790T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-176T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2790T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2790T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2798T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1382T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+251T>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-43677985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43677985
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43677985
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1284C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2888C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-274C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2888C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.213C>T
  hgvsp: ENST00000586592.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2896C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2888C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+153C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp71Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

18-43677986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43677986
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43677986
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2897A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2889A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1283A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2889A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.212A>G
  hgvsp: ENSP00000466275.3:p.Asp71Gly
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-275A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2889A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+152A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp71Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

18-43678001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678001
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678001
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-290T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.197T>C
  hgvsp: ENSP00000466275.3:p.Leu66Pro
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1268T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2912T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2904T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2904T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2904T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+137T>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34480
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu66Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS

18-43678014-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678014
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678014
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2917T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2925T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2917T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2917T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-303T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.184T>A
  hgvsp: ENSP00000466275.3:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1255T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+124T>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37042
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp62Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

18-43678016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678016
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678016
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2919C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.182C>A
  hgvsp: ENSP00000466275.3:p.Pro61Gln
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-305C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2919C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2927C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1253C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2919C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+122C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+122C>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36989
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro61Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

18-43678017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678017
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678017
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2920C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2920C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2928C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1252C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-306C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.181C>T
  hgvsp: ENSP00000466275.3:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+121C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2920C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36853
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro61Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

18-43678018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678018
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678018
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2921C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2921C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.180C>A
  hgvsp: ENSP00000466275.3:p.His60Gln
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2921C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-307C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2929C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+120C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1251C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+120C>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36891
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His60Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

18-43678024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678024
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678024
    reference: chr 18
allele count: 1488
allele frequency: 5.581395348837209e-1
allele num: 2666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.174C>T
  hgvsp: ENST00000586592.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2927C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-313C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2927C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2927C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1245C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2935C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+114C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27450
  bin: 2.5e0
  variant carriers: 4877
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile58Ile
num of homozygotes: 322
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

18-43678025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678025
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678025
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2928T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2928T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.173T>C
  hgvsp: ENSP00000466275.3:p.Ile58Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2928T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1244T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-314T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2936T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+113T>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31281
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile58Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

18-43678026-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678026
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678026
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1243A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.172A>C
  hgvsp: ENSP00000466275.3:p.Ile58Leu
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2929A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2929A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-315A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2929A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2937A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+112A>C
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+112A>C
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31332
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile58Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-43678029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678029
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-318G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.169G>T
  hgvsp: ENSP00000466275.3:p.Ala57Ser
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2932G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2932G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2932G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1240G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2940G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+109G>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala57Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

18-43678029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678029
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2540
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2932G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.169G>A
  hgvsp: ENSP00000466275.3:p.Ala57Thr
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2932G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-318G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1240G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2932G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2940G>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+109G>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala57Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

18-43678030-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678030
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678030
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-319C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2933C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2933C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2933C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.168C>A
  hgvsp: ENST00000586592.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2941C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1239C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+108C>A
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31498
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-43678031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678031
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678031
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 2686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.167C>T
  hgvsp: ENSP00000466275.3:p.Ala56Val
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2934C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-320C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2934C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2942C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1238C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2934C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+107C>T
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+107C>T
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

18-43678035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43678035
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43678035
    reference: chr 18
allele count: 3754
allele frequency: 6.472413793103449e-1
allele num: 5800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468618
  ensembl transcript: ENST00000592364
  gene symbol: ATP5A1
  hgvsc: ENST00000592364.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000590448
  gene symbol: ATP5A1
  hgvsc: ENST00000590448.1:n.118-2938A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000282050
  ensembl transcript: ENST00000282050
  gene symbol: ATP5A1
  hgvsc: ENST00000282050.2:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467830
  ensembl transcript: ENST00000592989
  gene symbol: ATP5A1
  hgvsc: ENST00000592989.1:c.-82-2946A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467983
  ensembl transcript: ENST00000585650
  gene symbol: ATP5A1
  hgvsc: ENST00000585650.1:c.38+1234A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465477
  ensembl transcript: ENST00000593152
  gene symbol: ATP5A1
  hgvsc: ENST00000593152.2:c.-324A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465259
  ensembl transcript: ENST00000590324
  gene symbol: ATP5A1
  hgvsc: ENST00000590324.1:c.-276-2938A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465805
  ensembl transcript: ENST00000591981
  gene symbol: ATP5A1
  hgvsc: ENST00000591981.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000465497
  ensembl transcript: ENST00000589869
  gene symbol: ATP5A1
  hgvsc: ENST00000589869.1:c.-90-2938A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466275
  ensembl transcript: ENST00000586592
  gene symbol: ATP5A1
  hgvsc: ENST00000586592.1:c.163A>G
  hgvsp: ENSP00000466275.3:p.Asn55Asp
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000381736
  ensembl transcript: ENST00000398752
  gene symbol: ATP5A1
  hgvsc: ENST00000398752.6:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000588390
  gene symbol: ATP5A1
  hgvsc: ENST00000588390.1:n.124+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466975
  ensembl transcript: ENST00000589252
  gene symbol: ATP5A1
  hgvsc: ENST00000589252.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000466309
  ensembl transcript: ENST00000590156
  gene symbol: ATP5A1
  hgvsc: ENST00000590156.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000467037
  ensembl transcript: ENST00000590665
  gene symbol: ATP5A1
  hgvsc: ENST00000590665.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl transcript: ENST00000591267
  gene symbol: ATP5A1
  hgvsc: ENST00000591267.1:n.125+103A>G
  variant of: http://identifiers.org/hgnc/823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152234
  ensembl protein: ENSP00000468458
  ensembl transcript: ENST00000590406
  gene symbol: ATP5A1
  hgvsc: ENST00000590406.1:c.60+103A>G
  variant of: http://identifiers.org/hgnc/823
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 2414
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn55Asp
num of homozygotes: 1024
reference allele: T

GenotypeDepth
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1301
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3923
bin: 7.5e0
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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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.071253071253071e-4
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024800163968026e-4
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.612019215269046e-5
allele num: 62034
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14574
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.51e0

BaseQRankSum
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FS
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ReadPosRankSum
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QD
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SIO_000300: 1.21e1

MQRankSum
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SIO_000300: 3.39e-1

ClippingRankSum
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SIO_000300: -1.37e-1

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.378744e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeDepth
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variant carriers: 1

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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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: 2
allele frequency: 3.198464736926275e-5
allele num: 62530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
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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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.4e-3

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 4.3e-2

QD
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SIO_000300: 1.437e1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.59e-1

BaseQRankSum
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SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 1.388319e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
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

Other
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allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.396929473852551e-5
allele num: 62530
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 7.265681763138775e-4
allele num: 8258
num of homozygotes: 0

InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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QD
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SIO_000300: 1.437e1

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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bin: 6.25e1
variant carriers: 0

African
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allele count: 4
allele frequency: 4.056795131845842e-4
allele num: 9860
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62828
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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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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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: 9900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63026
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 3.26e-1

BaseQRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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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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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

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

European (Finnish)
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South Asian
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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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East Asian
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Other
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 1.661e0

DP
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SIO_000300: 1.465179e6

GenotypeDepth
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variant carriers: 46

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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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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allele count: 0
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African
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allele frequency: 7.932229495571813e-2
allele num: 10388
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South Asian
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 13
allele frequency: 1.952421002042533e-4
allele num: 66584
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MQRankSum
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SIO_000300: 2.55e-1

QD
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InbreedingCoeff
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SIO_000300: 6.370000000000001e-2

FS
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.055e0

DP
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SIO_000300: 1.506695e6

ReadPosRankSum
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SIO_000300: 5.72e-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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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 num: 66570
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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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Other
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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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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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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Other
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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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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GenotypeQuality
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Latino
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num of homozygotes: 0

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

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Finnish)
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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

European (Non-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 frequency: 0.0e0
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African
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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

VQSLOD
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SIO_000300: 2.88e-1

MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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SIO_000300: 1.466036e6

QD
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SIO_000300: 1.015e1

ClippingRankSum
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SIO_000300: -2.19e-1

GenotypeDepth
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variant carriers: 1

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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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

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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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 5.968e1

ReadPosRankSum
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SIO_000300: -1.917e0

GenotypeDepth
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variant carriers: 1

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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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: 66482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

Other
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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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num of homozygotes: 0

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

East Asian
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allele count: 12
allele frequency: 1.391465677179963e-3
allele num: 8624
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.65e0

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.466125e6

ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
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SIO_000300: 5.966e1

FS
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SIO_000300: 5.600000000000001e-1

ReadPosRankSum
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SIO_000300: -4.0e-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
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

Other
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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: 3.008966720828068e-5
allele num: 66468
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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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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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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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
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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

Other
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African
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allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

Latino
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African
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allele frequency: 9.865824782951855e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele 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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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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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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European (Finnish)
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Other
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African
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East Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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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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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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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Other
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Latino
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African
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South Asian
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East Asian
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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Latino
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African
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European (Finnish)
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East Asian
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 2.659574468085106e-4
allele num: 11280
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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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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European (Finnish)
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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: 15470
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

ClippingRankSum
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DP
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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SIO_000300: 5.918e1

VQSLOD
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SIO_000300: 1.8e-1

InbreedingCoeff
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SIO_000300: -1.2e-3

BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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: 0
allele frequency: 0.0e0
allele num: 62612
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.783102143757881e-4
allele num: 7930
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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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

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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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 1.055966209081309e-4
allele num: 9470
num of homozygotes: 0

Latino
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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 (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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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.25e0

DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: -1.171e0

FS
type: SiteQuality
SIO_000300: 5.17e0

InbreedingCoeff
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SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.492e1

BaseQRankSum
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SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 5.74e1

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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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 60778
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Finnish)
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allele count: 0
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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FS
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QD
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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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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Latino
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allele frequency: 1.815870710005448e-4
allele num: 11014
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 60024
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European (Finnish)
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South Asian
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allele frequency: 4.032258064516129e-4
allele num: 14880
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Other
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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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African
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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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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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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African
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allele num: 8806
num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Other
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East Asian
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African
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South Asian
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DP
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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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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African
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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FS
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DP
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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Latino
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South Asian
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MQ
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all individuals: 118
bin: 4.75e1
variant carriers: 117

GenotypeQuality
all individuals: 4173
bin: 2.25e1
variant carriers: 1118

GenotypeQuality
all individuals: 737
bin: 6.25e1
variant carriers: 715

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 122

GenotypeQuality
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bin: 3.25e1
variant carriers: 620

GenotypeQuality
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variant carriers: 461

GenotypeQuality
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variant carriers: 176

GenotypeQuality
all individuals: 1046
bin: 2.75e1
variant carriers: 972

GenotypeQuality
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bin: 7.25e1
variant carriers: 265

GenotypeQuality
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bin: 5.25e1
variant carriers: 276

GenotypeQuality
all individuals: 1932
bin: 9.75e1
variant carriers: 1932

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 159

European (Non-Finnish)
type: Population
allele count: 741
allele frequency: 5.7e-1
allele num: 1300
num of homozygotes: 160

Latino
type: Population
allele count: 48
allele frequency: 5.454545454545454e-1
allele num: 88
num of homozygotes: 10

Other
type: Population
allele count: 9
allele frequency: 5.625e-1
allele num: 16
num of homozygotes: 2

South Asian
type: Population
allele count: 611
allele frequency: 5.886319845857418e-1
allele num: 1038
num of homozygotes: 143

East Asian
type: Population
allele count: 9
allele frequency: 1.607142857142857e-1
allele num: 56
num of homozygotes: 0

African
type: Population
allele count: 54
allele frequency: 3.857142857142857e-1
allele num: 140
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 16
allele frequency: 5.714285714285714e-1
allele num: 28
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.997e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 2.354e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.85021e5

VQSLOD
type: SiteQuality
SIO_000300: 7.01e0

GenotypeDepth
all individuals: 13534
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 1113
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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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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: 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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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: 1

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: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.03e-2

QD
type: SiteQuality
SIO_000300: 2.57e1

VQSLOD
type: SiteQuality
SIO_000300: -1.576e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 1.82752e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

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

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3
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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
all individuals: 96
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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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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 503
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variant carriers: 0

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 27293
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5303
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variant carriers: 0

GenotypeQuality
all individuals: 4672
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variant carriers: 0

GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 6243
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variant carriers: 0

GenotypeQuality
all individuals: 1388
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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: 3
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 37
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.8415e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.601e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

MQ
type: SiteQuality
SIO_000300: 5.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

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

GenotypeDepth
all individuals: 57
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variant carriers: 0

GenotypeDepth
all individuals: 99
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variant carriers: 0

GenotypeDepth
all individuals: 14223
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 31343
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 6875
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 1

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 27232
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 5
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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: 4999
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.89741e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 6.89e0

GenotypeDepth
all individuals: 1173
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.5e0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 1

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: 5
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.89741e5

GenotypeDepth
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bin: 9.25e1
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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.92285e5

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

QD
type: SiteQuality
SIO_000300: 6.41e0

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

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

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

GenotypeDepth
all individuals: 14638
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 95
bin: 1.75e1
variant carriers: 0

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

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

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

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

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

GenotypeDepth
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4665
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4722
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.455e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.742e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.9412e5

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

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

GenotypeDepth
all individuals: 19174
bin: 7.5e0
variant carriers: 12521

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

GenotypeDepth
all individuals: 281
bin: 1.75e1
variant carriers: 274

GenotypeDepth
all individuals: 19688
bin: 2.5e0
variant carriers: 7073

GenotypeDepth
all individuals: 11
bin: 3.25e1
variant carriers: 10

GenotypeDepth
all individuals: 73
bin: 2.25e1
variant carriers: 52

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

GenotypeDepth
all individuals: 2
bin: 3.75e1
variant carriers: 2

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

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

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

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

GenotypeQuality
all individuals: 298
bin: 3.75e1
variant carriers: 287

GenotypeQuality
all individuals: 5145
bin: 2.25e1
variant carriers: 2713