http://identifiers.org/exac.variant/19-16758045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758045
    reference: chr 19
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.149G>T
  hgvsp: ENSP00000470899.1:p.Ter50LeuextTer57
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.149G>T
  hgvsp: ENSP00000472877.1:p.Ter50LeuextTer72
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12161G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*227G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.149G>T
  hgvsp: ENSP00000432842.1:p.Ter50LeuextTer126
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.149G>T
  hgvsp: ENSP00000470601.1:p.Ter50LeuextTer84
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.149G>T
  hgvsp: ENSP00000472562.1:p.Ter50LeuextTer106
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*167G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.341G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.*12G>T
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.149G>T
  hgvsp: ENSP00000470469.1:p.Ter50LeuextTer?
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.*12G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*285G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter50LeuextTer106
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-16758049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758049
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758049
    reference: chr 19
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.145C>T
  hgvsp: ENSP00000472877.1:p.Arg49Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.145C>T
  hgvsp: ENSP00000470469.1:p.Arg49Ter
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.145C>T
  hgvsp: ENSP00000470601.1:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.*8C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12157C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.145C>T
  hgvsp: ENSP00000470899.1:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.145C>T
  hgvsp: ENSP00000432842.1:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.*8C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.145C>T
  hgvsp: ENSP00000472562.1:p.Arg49Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.234C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.337C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg49Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-16758065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758065
    reference: chr 19
allele count: 18
allele frequency: 1.501927473591109e-4
allele num: 119846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.129G>A
  hgvsp: ENST00000602194.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.129G>A
  hgvsp: ENST00000600705.1:c.129G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.129G>A
  hgvsp: ENST00000598278.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.184G>A
  hgvsp: ENSP00000471391.1:p.Gly62Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.220G>A
  hgvsp: ENSP00000469918.1:p.Gly74Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.184G>A
  hgvsp: ENSP00000471293.1:p.Gly62Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.184G>A
  hgvsp: ENSP00000472751.1:p.Gly62Ser
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.129G>A
  hgvsp: ENST00000597711.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.220G>A
  hgvsp: ENSP00000417147.1:p.Gly74Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.220G>A
  hgvsp: ENSP00000471355.1:p.Gly74Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.220G>A
  hgvsp: ENSP00000469962.1:p.Gly74Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.214G>A
  hgvsp: ENSP00000471649.1:p.Gly72Ser
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12141G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.321G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.218G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.129G>A
  hgvsp: ENST00000465250.2:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly74Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-16758069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758069
    reference: chr 19
allele count: 1
allele frequency: 8.3462700519138e-6
allele num: 119814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.216G>T
  hgvsp: ENST00000597781.1:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12137G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.180G>T
  hgvsp: ENST00000600740.1:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.210G>T
  hgvsp: ENST00000593991.1:c.210G>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.216G>T
  hgvsp: ENST00000487416.2:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*203G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.125G>T
  hgvsp: ENSP00000470899.1:p.Cys42Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.125G>T
  hgvsp: ENSP00000472562.1:p.Cys42Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.125G>T
  hgvsp: ENSP00000432842.1:p.Cys42Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.180G>T
  hgvsp: ENST00000594662.1:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*261G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.216G>T
  hgvsp: ENST00000593409.1:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.216G>T
  hgvsp: ENST00000593404.1:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.180G>T
  hgvsp: ENST00000601636.1:c.180G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.125G>T
  hgvsp: ENSP00000470469.1:p.Cys42Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.125G>T
  hgvsp: ENSP00000472877.1:p.Cys42Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.125G>T
  hgvsp: ENSP00000470601.1:p.Cys42Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.317G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*143G>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys42Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-16758076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758076
    reference: chr 19
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-4C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12130C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-4C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213-4C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-16758080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758080
    reference: chr 19
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-8T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-8T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-8T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*258-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-8T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-8T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-8T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-16758093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758093
    reference: chr 19
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-21T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-21T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-21T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-21T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12113T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-21T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-21T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-21T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-16758096-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758096
    reference: chr 19
allele count: 4
allele frequency: 3.347784603538608e-5
allele num: 119482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12110A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-24A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*258-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-24A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-24A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-24A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-24A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-24A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-24A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

19-16758101-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758101
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758101
    reference: chr 19
allele count: 1
allele frequency: 8.376893177858196e-6
allele num: 119376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-29C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-29C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12105C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-29C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-29C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-29C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-29C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-29C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-29C>G
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

19-16758103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758103
    reference: chr 19
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*258-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-31C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-31C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-16758104-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758104
    reference: chr 19
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-32T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-32T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-32T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-32T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-32T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-32T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12102T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

19-16758120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758120
    reference: chr 19
allele count: 1
allele frequency: 8.426871608184177e-6
allele num: 118668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-48C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-48C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*200-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-48C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-48C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-48C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-48C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+12086C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*258-48C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*140-48C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-16758122-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16758122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16758122
    reference: chr 19
allele count: 2
allele frequency: 1.686340640809443e-5
allele num: 118600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.177-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.177-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-50A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.207-50A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.211-50A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.314-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-50A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.177-50A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.213-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-50A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.207-50A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*258-50A>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-16763633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763633
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763633
    reference: chr 19
allele count: 1
allele frequency: 6.30119722747322e-5
allele num: 15870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1213G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1213G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.*40G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+1213G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5561G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1213G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5561G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.306G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5561G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5561G>A
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-16763659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763659
    reference: chr 19
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5587G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5587G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1187G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+1187G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.280G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1187G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.*14G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5587G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1187G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5587G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1187G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5587G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+6547G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-16763660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763660
    reference: chr 19
allele count: 1
allele frequency: 6.155361319709468e-5
allele num: 16246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5588C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1186C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5588C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5588C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.279C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.*13C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1186C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1186C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5588C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5588C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1186C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-16763677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763677
    reference: chr 19
allele count: 6
allele frequency: 3.648747263439553e-4
allele num: 16444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.308T>C
  hgvsp: ENSP00000437332.1:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5605T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+6529T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.308T>C
  hgvsp: ENSP00000351569.5:p.Ile103Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1169T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5605T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1169T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5605T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5605T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5605T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1169T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.262T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+1169T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile103Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-16763680-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763680
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763680
    reference: chr 19
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5608G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5608G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.305G>C
  hgvsp: ENSP00000351569.5:p.Trp102Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.259G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5608G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-5608G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1166G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+1166G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.305G>C
  hgvsp: ENSP00000437332.1:p.Trp102Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+6526G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1166G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+1166G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1166G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1166G>C
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp102Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

19-16763704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763704
    reference: chr 19
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5632C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5632C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5632C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5632C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1142C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.235C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.281C>T
  hgvsp: ENSP00000437332.1:p.Thr94Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.281C>T
  hgvsp: ENSP00000351569.5:p.Thr94Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-5632C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1142C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1142C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+6502C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr94Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-16763741-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763741
    reference: chr 19
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-5669T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.244T>G
  hgvsp: ENSP00000351569.5:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.244T>G
  hgvsp: ENSP00000437332.1:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.198T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.122-5669T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+6465T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+1105T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5669T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1105T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1105T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.122-5669T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5669T>G
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser82Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-16763809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16763809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16763809
    reference: chr 19
allele count: 1
allele frequency: 6.418485237483954e-5
allele num: 15580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.122-5737T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+1037T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.167-37T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.122-5737T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.122-5737T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+1037T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+1037T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.213-37T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+1037T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.122-5737T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+1037T>C
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-16764799-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764799
    reference: chr 19
allele count: 1
allele frequency: 9.043880910176176e-6
allele num: 110572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+47T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5407T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5407T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5407T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5407T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5407T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.293T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+47T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+47T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+47T>G
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-16764800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764800
    reference: chr 19
allele count: 1
allele frequency: 9.044044496698923e-6
allele num: 110570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5406C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+46C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+46C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5406C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.292C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+46C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5406C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5406C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+46C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+46C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5406C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-16764801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764801
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764801
    reference: chr 19
allele count: 1
allele frequency: 9.031139368542735e-6
allele num: 110728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.291C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5405C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+45C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5405C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5405C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5405C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+45C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+45C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5405C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+45C>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-16764802-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764802
    reference: chr 19
allele count: 53
allele frequency: 4.782875500848284e-4
allele num: 110812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5404T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.290T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5404T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5404T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+44T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5404T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5404T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+44T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+44T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+44T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+44T>A
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-16764805-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764805
    reference: chr 19
allele count: 1
allele frequency: 9.028530155290718e-6
allele num: 110760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+41G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5401G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5401G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5401G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.287G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+41G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5401G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5401G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+41G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+41G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+41G>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-16764806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764806
    reference: chr 19
allele count: 1
allele frequency: 8.990703612464711e-6
allele num: 111226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.286A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+40A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5400A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+40A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5400A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+40A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5400A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+40A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-16764813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764813
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764813
    reference: chr 19
allele count: 1
allele frequency: 8.981982143819498e-6
allele num: 111334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5393G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+33G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5393G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+33G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5393G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.279G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+33G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+33G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5393G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+33G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+33G>A
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

19-16764814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764814
    reference: chr 19
allele count: 6
allele frequency: 5.36346408266886e-5
allele num: 111868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5392C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5392C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5392C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+32C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5392C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5392C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.206+32C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.278C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5392C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+32C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-16764816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764816
    reference: chr 19
allele count: 1
allele frequency: 8.909955984817435e-6
allele num: 112234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5390G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5390G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+30G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+30G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.276G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5390G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5390G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+30G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5390G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5390G>A
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-16764818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764818
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764818
    reference: chr 19
allele count: 1
allele frequency: 8.87154009936125e-6
allele num: 112720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5388C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5388C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.274C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+28C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5388C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+28C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5388C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+28C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+28C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5388C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5388C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+28C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

19-16764818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764818
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764818
    reference: chr 19
allele count: 1
allele frequency: 8.87154009936125e-6
allele num: 112720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5388C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5388C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+28C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5388C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5388C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+28C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.274C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+28C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5388C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5388C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+28C>G
  variant of: http://identifiers.org/hgnc/28419
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-16764826-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764826
    reference: chr 19
allele count: 23
allele frequency: 2.011474148184426e-4
allele num: 114344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5380T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.166+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.266T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+20T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.210+20T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5380T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+20T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+20T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5380T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5380T>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-16764831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764831
    reference: chr 19
allele count: 1
allele frequency: 8.672575581496193e-6
allele num: 115306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.313+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.176+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.261C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.176+15C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5375C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*199+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.176+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5375C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5375C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*139+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5375C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.206+15C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.212+15C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5375C>G
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-16764847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764847
    reference: chr 19
allele count: 2
allele frequency: 1.695576241585703e-5
allele num: 117954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.165G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5359G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5359G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.175G>C
  hgvsp: ENSP00000472751.1:p.Val59Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*198G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.209G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.211G>C
  hgvsp: ENSP00000433833.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5359G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.312G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5359G>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.175G>C
  hgvsp: ENSP00000471391.1:p.Val59Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.175G>C
  hgvsp: ENSP00000471293.1:p.Val59Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.211G>C
  hgvsp: ENSP00000417147.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.211G>C
  hgvsp: ENSP00000351569.5:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.211G>C
  hgvsp: ENSP00000469918.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.211G>C
  hgvsp: ENSP00000469440.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5359G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.211G>C
  hgvsp: ENSP00000469962.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val71Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-16764853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764853
    reference: chr 19
allele count: 1
allele frequency: 8.432840855427377e-6
allele num: 118584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.205A>G
  hgvsp: ENSP00000437332.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.205A>G
  hgvsp: ENSP00000351569.5:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5353A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*132A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.169A>G
  hgvsp: ENSP00000472751.1:p.Met57Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.205A>G
  hgvsp: ENSP00000471355.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.205A>G
  hgvsp: ENSP00000469918.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.199A>G
  hgvsp: ENSP00000472547.1:p.Met67Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.205A>G
  hgvsp: ENSP00000469440.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.203A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.205A>G
  hgvsp: ENSP00000433833.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.205A>G
  hgvsp: ENSP00000469962.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.306A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.199A>G
  hgvsp: ENSP00000471649.1:p.Met67Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.169A>G
  hgvsp: ENSP00000471391.1:p.Met57Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.239A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5353A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.159A>G
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met69Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-16764859-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764859
    reference: chr 19
allele count: 2
allele frequency: 1.680474566017443e-5
allele num: 119014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.199T>A
  hgvsp: ENSP00000469962.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5347T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.193T>A
  hgvsp: ENSP00000472547.1:p.Phe65Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.163T>A
  hgvsp: ENSP00000471391.1:p.Phe55Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.199T>A
  hgvsp: ENSP00000469918.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.199T>A
  hgvsp: ENSP00000351569.5:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.199T>A
  hgvsp: ENSP00000437332.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.199T>A
  hgvsp: ENSP00000469440.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.163T>A
  hgvsp: ENSP00000472751.1:p.Phe55Ile
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*126T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5347T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.153T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.199T>A
  hgvsp: ENSP00000417147.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*186T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.199T>A
  hgvsp: ENSP00000433833.1:p.Phe67Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.193T>A
  hgvsp: ENSP00000471649.1:p.Phe65Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.163T>A
  hgvsp: ENSP00000471293.1:p.Phe55Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.300T>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.233T>A
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe67Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

19-16764862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764862
    reference: chr 19
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.160A>G
  hgvsp: ENSP00000472751.1:p.Met54Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.196A>G
  hgvsp: ENSP00000469440.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.297A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.196A>G
  hgvsp: ENSP00000351569.5:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.196A>G
  hgvsp: ENSP00000437332.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.160A>G
  hgvsp: ENSP00000471293.1:p.Met54Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.196A>G
  hgvsp: ENSP00000469918.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.196A>G
  hgvsp: ENSP00000433833.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.196A>G
  hgvsp: ENSP00000469962.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.196A>G
  hgvsp: ENSP00000471355.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.230A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5344A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.194A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.160A>G
  hgvsp: ENSP00000471391.1:p.Met54Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.196A>G
  hgvsp: ENSP00000417147.1:p.Met66Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5344A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.190A>G
  hgvsp: ENSP00000472547.1:p.Met64Val
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5344A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*123A>G
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met66Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-16764863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764863
    reference: chr 19
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.195G>A
  hgvsp: ENSP00000469962.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.193G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.195G>A
  hgvsp: ENSP00000469918.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.189G>A
  hgvsp: ENSP00000472547.1:p.Met63Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.229G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.189G>A
  hgvsp: ENSP00000471649.1:p.Met63Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.195G>A
  hgvsp: ENSP00000437332.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.195G>A
  hgvsp: ENSP00000471355.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5343G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*182G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.296G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.195G>A
  hgvsp: ENSP00000433833.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5343G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.159G>A
  hgvsp: ENSP00000471391.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.195G>A
  hgvsp: ENSP00000417147.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.159G>A
  hgvsp: ENSP00000472751.1:p.Met53Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.195G>A
  hgvsp: ENSP00000351569.5:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.195G>A
  hgvsp: ENSP00000469440.1:p.Met65Ile
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met65Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-16764864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764864
    reference: chr 19
allele count: 1
allele frequency: 8.381105635455429e-6
allele num: 119316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5342T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.194T>C
  hgvsp: ENSP00000469440.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.194T>C
  hgvsp: ENSP00000437332.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.194T>C
  hgvsp: ENSP00000469962.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.188T>C
  hgvsp: ENSP00000471649.1:p.Met63Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.194T>C
  hgvsp: ENSP00000351569.5:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.228T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.158T>C
  hgvsp: ENSP00000471293.1:p.Met53Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5342T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.194T>C
  hgvsp: ENSP00000417147.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*181T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.188T>C
  hgvsp: ENSP00000472547.1:p.Met63Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.194T>C
  hgvsp: ENSP00000471355.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5342T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.158T>C
  hgvsp: ENSP00000472751.1:p.Met53Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.148T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5342T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.194T>C
  hgvsp: ENSP00000469918.1:p.Met65Thr
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met65Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-16764876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764876
    reference: chr 19
allele count: 2
allele frequency: 1.669170422300117e-5
allele num: 119820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.216G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.283G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.182G>T
  hgvsp: ENSP00000469962.1:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*169G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.176G>T
  hgvsp: ENSP00000472547.1:p.Trp59Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.146G>T
  hgvsp: ENSP00000472751.1:p.Trp49Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.182G>T
  hgvsp: ENSP00000437332.1:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5330G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.182G>T
  hgvsp: ENSP00000469440.1:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5330G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.182G>T
  hgvsp: ENSP00000471355.1:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.146G>T
  hgvsp: ENSP00000471293.1:p.Trp49Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.182G>T
  hgvsp: ENSP00000351569.5:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.182G>T
  hgvsp: ENSP00000433833.1:p.Trp61Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.176G>T
  hgvsp: ENSP00000471649.1:p.Trp59Leu
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5330G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5330G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5330G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.146G>T
  hgvsp: ENSP00000471391.1:p.Trp49Leu
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp61Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-16764880-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764880
    reference: chr 19
allele count: 24
allele frequency: 2.00153450979084e-4
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*165C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.279C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.178C>G
  hgvsp: ENSP00000469962.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.178C>G
  hgvsp: ENSP00000469918.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.178C>G
  hgvsp: ENSP00000433833.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.178C>G
  hgvsp: ENSP00000351569.5:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.178C>G
  hgvsp: ENSP00000469440.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5326C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*105C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.142C>G
  hgvsp: ENSP00000471293.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.178C>G
  hgvsp: ENSP00000471355.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.142C>G
  hgvsp: ENSP00000472751.1:p.Leu48Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.178C>G
  hgvsp: ENSP00000437332.1:p.Leu60Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5326C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.176C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.142C>G
  hgvsp: ENSP00000471391.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5326C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5326C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.172C>G
  hgvsp: ENSP00000471649.1:p.Leu58Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu60Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-16764883-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764883
    reference: chr 19
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.169G>T
  hgvsp: ENSP00000472547.1:p.Ala57Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.175G>T
  hgvsp: ENSP00000433833.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.175G>T
  hgvsp: ENSP00000471355.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.175G>T
  hgvsp: ENSP00000351569.5:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*162G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.175G>T
  hgvsp: ENSP00000437332.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.169G>T
  hgvsp: ENSP00000471649.1:p.Ala57Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.276G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.175G>T
  hgvsp: ENSP00000469440.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.175G>T
  hgvsp: ENSP00000469918.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.175G>T
  hgvsp: ENSP00000417147.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5323G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.139G>T
  hgvsp: ENSP00000472751.1:p.Ala47Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.209G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*102G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5323G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.129G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5323G>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.175G>T
  hgvsp: ENSP00000469962.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala59Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-16764883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764883
    reference: chr 19
allele count: 2
allele frequency: 1.667333600106709e-5
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.139G>A
  hgvsp: ENSP00000471293.1:p.Ala47Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5323G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.175G>A
  hgvsp: ENSP00000437332.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.276G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.169G>A
  hgvsp: ENSP00000472547.1:p.Ala57Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.139G>A
  hgvsp: ENSP00000472751.1:p.Ala47Thr
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5323G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.175G>A
  hgvsp: ENSP00000469962.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5323G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5323G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.175G>A
  hgvsp: ENSP00000433833.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.175G>A
  hgvsp: ENSP00000469440.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.175G>A
  hgvsp: ENSP00000351569.5:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.175G>A
  hgvsp: ENSP00000469918.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5323G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.129G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.175G>A
  hgvsp: ENSP00000471355.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.173G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala59Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-16764884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764884
    reference: chr 19
allele count: 2
allele frequency: 1.666722224074136e-5
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.208C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5322C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.174C>T
  hgvsp: ENST00000599310.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5322C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.138C>T
  hgvsp: ENST00000594662.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.172C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.174C>T
  hgvsp: ENST00000481671.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.174C>T
  hgvsp: ENST00000593404.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.174C>T
  hgvsp: ENST00000597781.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.174C>T
  hgvsp: ENST00000358726.6:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.168C>T
  hgvsp: ENST00000594509.1:c.168C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.138C>T
  hgvsp: ENST00000600740.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.128C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.174C>T
  hgvsp: ENST00000487803.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5322C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.174C>T
  hgvsp: ENST00000593409.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.174C>T
  hgvsp: ENST00000487416.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*101C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile58Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-16764884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764884
    reference: chr 19
allele count: 6
allele frequency: 5.000166672222407e-5
allele num: 119996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.174C>G
  hgvsp: ENSP00000469440.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.168C>G
  hgvsp: ENSP00000472547.1:p.Ile56Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.138C>G
  hgvsp: ENSP00000472751.1:p.Ile46Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.174C>G
  hgvsp: ENSP00000433833.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*161C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.128C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.174C>G
  hgvsp: ENSP00000351569.5:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.174C>G
  hgvsp: ENSP00000437332.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.174C>G
  hgvsp: ENSP00000469962.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5322C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5322C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5322C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.168C>G
  hgvsp: ENSP00000471649.1:p.Ile56Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.174C>G
  hgvsp: ENSP00000469918.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.174C>G
  hgvsp: ENSP00000417147.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.174C>G
  hgvsp: ENSP00000471355.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.275C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5322C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5322C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile58Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-16764886-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764886
    reference: chr 19
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.273A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.166A>G
  hgvsp: ENSP00000472547.1:p.Ile56Val
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5320A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.172A>G
  hgvsp: ENSP00000469962.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.136A>G
  hgvsp: ENSP00000471391.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.166A>G
  hgvsp: ENSP00000471649.1:p.Ile56Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.172A>G
  hgvsp: ENSP00000469440.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5320A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5320A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.172A>G
  hgvsp: ENSP00000469918.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.172A>G
  hgvsp: ENSP00000351569.5:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.206A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.172A>G
  hgvsp: ENSP00000417147.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*159A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.172A>G
  hgvsp: ENSP00000437332.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.136A>G
  hgvsp: ENSP00000472751.1:p.Ile46Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.126A>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.172A>G
  hgvsp: ENSP00000433833.1:p.Ile58Val
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile58Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-16764894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764894
    reference: chr 19
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.128G>A
  hgvsp: ENSP00000471391.1:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.164G>A
  hgvsp: ENSP00000469440.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.164G>A
  hgvsp: ENSP00000469918.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.265G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.164G>A
  hgvsp: ENSP00000351569.5:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.128G>A
  hgvsp: ENSP00000472751.1:p.Arg43Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.158G>A
  hgvsp: ENSP00000471649.1:p.Arg53Gln
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5312G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.164G>A
  hgvsp: ENSP00000469962.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.118G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.198G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.164G>A
  hgvsp: ENSP00000437332.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.164G>A
  hgvsp: ENSP00000471355.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.162G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.164G>A
  hgvsp: ENSP00000433833.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5312G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5312G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5312G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

19-16764895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764895
    reference: chr 19
allele count: 2
allele frequency: 1.665417603464068e-5
allele num: 120090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5311C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.127C>T
  hgvsp: ENSP00000472751.1:p.Arg43Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.163C>T
  hgvsp: ENSP00000433833.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.127C>T
  hgvsp: ENSP00000471391.1:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.157C>T
  hgvsp: ENSP00000472547.1:p.Arg53Ter
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5311C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.161C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.163C>T
  hgvsp: ENSP00000469918.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.163C>T
  hgvsp: ENSP00000417147.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.197C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.117C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.163C>T
  hgvsp: ENSP00000437332.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.163C>T
  hgvsp: ENSP00000351569.5:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.127C>T
  hgvsp: ENSP00000471293.1:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.163C>T
  hgvsp: ENSP00000469440.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.163C>T
  hgvsp: ENSP00000471355.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.157C>T
  hgvsp: ENSP00000471649.1:p.Arg53Ter
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5311C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.264C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

19-16764898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764898
    reference: chr 19
allele count: 2
allele frequency: 1.665001665001665e-5
allele num: 120120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.124T>C
  hgvsp: ENSP00000471293.1:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.158T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.160T>C
  hgvsp: ENSP00000469918.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.114T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.160T>C
  hgvsp: ENSP00000469962.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5308T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.154T>C
  hgvsp: ENSP00000471649.1:p.Phe52Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.160T>C
  hgvsp: ENSP00000471355.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.154T>C
  hgvsp: ENSP00000472547.1:p.Phe52Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.160T>C
  hgvsp: ENSP00000433833.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.194T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5308T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.160T>C
  hgvsp: ENSP00000469440.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.160T>C
  hgvsp: ENSP00000351569.5:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.160T>C
  hgvsp: ENSP00000437332.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*147T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.261T>C
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5308T>C
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe54Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-16764907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764907
    reference: chr 19
allele count: 3
allele frequency: 2.499333511063716e-5
allele num: 120032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.145C>T
  hgvsp: ENSP00000472547.1:p.Leu49Phe
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.149C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.151C>T
  hgvsp: ENSP00000469918.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.115C>T
  hgvsp: ENSP00000472751.1:p.Leu39Phe
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.252C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.105C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.151C>T
  hgvsp: ENSP00000471355.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.151C>T
  hgvsp: ENSP00000469962.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.151C>T
  hgvsp: ENSP00000433833.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.115C>T
  hgvsp: ENSP00000471391.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.185C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.151C>T
  hgvsp: ENSP00000437332.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.115C>T
  hgvsp: ENSP00000471293.1:p.Leu39Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5299C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5299C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.151C>T
  hgvsp: ENSP00000351569.5:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.151C>T
  hgvsp: ENSP00000469440.1:p.Leu51Phe
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu51Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

19-16764924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764924
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764924
    reference: chr 19
allele count: 6
allele frequency: 5.012782595618828e-5
allele num: 119694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5282G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.134G>A
  hgvsp: ENSP00000471355.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.132G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.128G>A
  hgvsp: ENSP00000471649.1:p.Arg43Gln
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.235G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.88G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.98G>A
  hgvsp: ENSP00000472751.1:p.Arg33Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.134G>A
  hgvsp: ENSP00000469440.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.134G>A
  hgvsp: ENSP00000433833.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000432842
  ensembl transcript: ENST00000465250
  gene symbol: SMIM7
  hgvsc: ENST00000465250.2:c.121+5282G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.134G>A
  hgvsp: ENSP00000469962.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5282G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.98G>A
  hgvsp: ENSP00000471391.1:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.134G>A
  hgvsp: ENSP00000351569.5:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.128G>A
  hgvsp: ENSP00000472547.1:p.Arg43Gln
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5282G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.134G>A
  hgvsp: ENSP00000437332.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg45Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-16764925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764925
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764925
    reference: chr 19
allele count: 12
allele frequency: 1.002422521092641e-4
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.133C>T
  hgvsp: ENSP00000469440.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5281C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.133C>T
  hgvsp: ENSP00000469962.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.133C>T
  hgvsp: ENSP00000351569.5:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5281C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.97C>T
  hgvsp: ENSP00000471391.1:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.87C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.133C>T
  hgvsp: ENSP00000437332.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.133C>T
  hgvsp: ENSP00000469918.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.127C>T
  hgvsp: ENSP00000471649.1:p.Arg43Trp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.131C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.133C>T
  hgvsp: ENSP00000471355.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5281C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.133C>T
  hgvsp: ENSP00000417147.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5281C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.97C>T
  hgvsp: ENSP00000471293.1:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.167C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg45Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-16764933-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764933
    reference: chr 19
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.123A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.226A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.125A>T
  hgvsp: ENSP00000469440.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.125A>T
  hgvsp: ENSP00000417147.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.125A>T
  hgvsp: ENSP00000469962.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.125A>T
  hgvsp: ENSP00000437332.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.125A>T
  hgvsp: ENSP00000433833.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*112A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470899
  ensembl transcript: ENST00000602194
  gene symbol: SMIM7
  hgvsc: ENST00000602194.1:c.121+5273A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5273A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.125A>T
  hgvsp: ENSP00000471355.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.119A>T
  hgvsp: ENSP00000471649.1:p.Asp40Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.79A>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.89A>T
  hgvsp: ENSP00000472751.1:p.Asp30Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.125A>T
  hgvsp: ENSP00000469918.1:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.119A>T
  hgvsp: ENSP00000472547.1:p.Asp40Val
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5273A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.125A>T
  hgvsp: ENSP00000351569.5:p.Asp42Val
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5273A>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp42Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

19-16764936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764936
    reference: chr 19
allele count: 19
allele frequency: 1.59524449220849e-4
allele num: 119104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.116G>A
  hgvsp: ENSP00000471649.1:p.Gly39Asp
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5270G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000594507
  gene symbol: SMIM7
  hgvsc: ENST00000594507.1:n.76G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5270G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.122G>A
  hgvsp: ENSP00000417147.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.116G>A
  hgvsp: ENSP00000472547.1:p.Gly39Asp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.223G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472877
  ensembl transcript: ENST00000600705
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000600705.1:c.121+5270G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.122G>A
  hgvsp: ENSP00000471355.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.122G>A
  hgvsp: ENSP00000437332.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.86G>A
  hgvsp: ENSP00000471391.1:p.Gly29Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.122G>A
  hgvsp: ENSP00000469918.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.86G>A
  hgvsp: ENSP00000471293.1:p.Gly29Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.122G>A
  hgvsp: ENSP00000469962.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5270G>A
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.86G>A
  hgvsp: ENSP00000472751.1:p.Gly29Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.122G>A
  hgvsp: ENSP00000433833.1:p.Gly41Asp
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.120G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly41Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-16764940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764940
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764940
    reference: chr 19
allele count: 13
allele frequency: 1.09675024465967e-4
allele num: 118532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.86-4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.86-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.86-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.120-4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471355
  ensembl transcript: ENST00000593404
  gene symbol: SMIM7
  hgvsc: ENST00000593404.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.116-4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5266C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000437332
  ensembl transcript: ENST00000487803
  gene symbol: SMIM7
  hgvsc: ENST00000487803.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5266C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.156-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000351569
  ensembl transcript: ENST00000358726
  gene symbol: SMIM7
  hgvsc: ENST00000358726.6:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.122-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.116-4C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.223-4C>T
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*109-4C>T
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.122-4C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-16764940-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16764940
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16764940
    reference: chr 19
allele count: 1
allele frequency: 8.436540343535924e-6
allele num: 118532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472751
  ensembl transcript: ENST00000601636
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000601636.1:c.86-4C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471293
  ensembl transcript: ENST00000594662
  gene symbol: SMIM7
  hgvsc: ENST00000594662.1:c.86-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000472547
  ensembl transcript: ENST00000593991
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593991.1:c.116-4C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469918
  ensembl transcript: ENST00000599310
  gene symbol: SMIM7
  hgvsc: ENST00000599310.1:c.122-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000397349
  gene symbol: SMIM7
  hgvsc: ENST00000397349.2:n.223-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000417147
  ensembl transcript: ENST00000487416
  gene symbol: SMIM7
  hgvsc: ENST00000487416.2:c.122-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000470601
  ensembl transcript: ENST00000597711
  gene symbol: SMIM7
  hgvsc: ENST00000597711.1:c.121+5266C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl transcript: ENST00000593962
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593962.1:n.120-4C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470469
  ensembl transcript: ENST00000595505
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000595505.1:c.121+5266C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000433833
  ensembl transcript: ENST00000481671
  gene symbol: SMIM7
  hgvsc: ENST00000481671.2:c.122-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl transcript: ENST00000461364
  gene symbol: SMIM7
  hgvsc: ENST00000461364.1:n.156-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000470086
  ensembl transcript: ENST00000593459
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000593459.1:c.115+5266C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000435127
  ensembl transcript: ENST00000461488
  gene symbol: SMIM7
  hgvsc: ENST00000461488.1:c.*49-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000436448
  ensembl transcript: ENST00000463051
  gene symbol: SMIM7
  hgvsc: ENST00000463051.1:c.*109-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000268790
  ensembl protein: ENSP00000471649
  ensembl transcript: ENST00000594509
  gene symbol: CTC-429P9.4
  hgvsc: ENST00000594509.1:c.116-4C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469962
  ensembl transcript: ENST00000593409
  gene symbol: SMIM7
  hgvsc: ENST00000593409.1:c.122-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000471391
  ensembl transcript: ENST00000600740
  gene symbol: SMIM7
  hgvsc: ENST00000600740.1:c.86-4C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000472562
  ensembl transcript: ENST00000598278
  gene symbol: SMIM7
  hgvsc: ENST00000598278.1:c.121+5266C>G
  variant of: http://identifiers.org/hgnc/28419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214046
  ensembl protein: ENSP00000469440
  ensembl transcript: ENST00000597781
  gene symbol: SMIM7
  hgvsc: ENST00000597781.1:c.122-4C>G
  variant of: http://identifiers.org/hgnc/28419
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.122-4C>G
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.*12G>T

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.*12G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.238G>T

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.*12G>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 4728
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 663
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 768
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9743
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3787
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2719
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2034
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4232
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10411
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3347
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26626
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.944e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.862e0

DP
type: SiteQuality
SIO_000300: 2.799427e6

FS
type: SiteQuality
SIO_000300: 1.645e0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.*8C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.*8C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.*8C>T

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.*8C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 10466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4735
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3360
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6649
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4231
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9749
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2720
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3787
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26626
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 5.032e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 2.800702e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.225e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.220G>A
hgvsp: ENSP00000469440.1:p.Gly74Ser
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.214G>A
hgvsp: ENSP00000472547.1:p.Gly72Ser

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.220G>A
hgvsp: ENSP00000433833.1:p.Gly74Ser
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.129G>A
hgvsp: ENST00000595505.1:c.129G>A(p.%3D)

GenotypeDepth
all individuals: 4724
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2720
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10540
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 713
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4235
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3789
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6618
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9573
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 822
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3350
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2033
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26634
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.147113594040968e-4
allele num: 8592
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.060798933139359e-4
allele num: 65988
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.860119047619048e-4
allele num: 16128
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.799465e6

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.210G>T
hgvsp: ENST00000594509.1:c.210G>T(p.%3D)

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.214G>T

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469918
ensembl transcript: ENST00000599310
gene symbol: SMIM7
hgvsc: ENST00000599310.1:c.216G>T
hgvsp: ENST00000599310.1:c.216G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.216G>T
hgvsp: ENST00000481671.2:c.216G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 10534
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 884
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9530
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 728
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3360
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16802
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.204243702692642e-5
allele num: 16118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.192e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 2.797766e6

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 8.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.122-4C>T

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.122-4C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.*258-4C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.122-4C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.122-4C>T

GenotypeDepth
all individuals: 6579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4727
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10536
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 763
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1042
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9277
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.484e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

DP
type: SiteQuality
SIO_000300: 2.794963e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*140-8T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*200-8T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+12126T>C

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.122-8T>C

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.122-8T>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 3789
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10512
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6575
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9250
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16580
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.201e0

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 2.793918e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.*258-21T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.213-21T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.177-21T>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 4228
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1552
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8497
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6546
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10408
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 809
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518602885345482e-5
allele num: 65850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.169e0

DP
type: SiteQuality
SIO_000300: 2.785264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: -1.439e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 7.7e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*140-24A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.213-24A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.122-24A>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 6545
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4228
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 812
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4712
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8242
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10342
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3789
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26624
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.557192769254139e-5
allele num: 65830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 2.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.782443e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.168e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.177-29C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.*258-29C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.122-29C>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 823
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6530
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3791
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1417
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7570
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4718
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1962
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10106
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4381
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.808e1

DP
type: SiteQuality
SIO_000300: 2.774711e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+12103C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.122-31C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.207-31C>T

GenotypeDepth
all individuals: 1898
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2093
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6492
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9907
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7168
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4723
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3789
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 2.769366e6

QD
type: SiteQuality
SIO_000300: 7.57e0

FS
type: SiteQuality
SIO_000300: 1.339e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.956e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.*258-32T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*200-32T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.122-32T>A

GenotypeDepth
all individuals: 4225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4714
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6491
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 828
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7166
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9925
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520635017183176e-5
allele num: 65762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

QD
type: SiteQuality
SIO_000300: 4.6e0

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.108e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.493e0

DP
type: SiteQuality
SIO_000300: 2.769144e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.177-48C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.314-48C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.122-48C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 4666
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5919
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7555
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3783
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3358
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4236
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4222
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2722
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.300403225806451e-5
allele num: 15872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 3.124e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 2.735698e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*140-50A>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+12084A>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*200-50A>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 7831
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2031
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3346
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2095
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5795
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7460
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4223
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3781
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2722
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2480
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1031
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26615
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.02757502027575e-4
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

DP
type: SiteQuality
SIO_000300: 2.733888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.856e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+6573G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.122-5561G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+1213G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472751
ensembl transcript: ENST00000601636
gene symbol: CTC-429P9.4
hgvsc: ENST00000601636.1:c.176+1213G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.122-5561G>A
variant of: http://identifiers.org/hgnc/28419

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

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

GenotypeDepth
all individuals: 2453
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1202
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1670
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.950838860710105e-4
allele num: 5126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 3.956e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

DP
type: SiteQuality
SIO_000300: 2.0153e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.949e0

QD
type: SiteQuality
SIO_000300: 1.228e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.122-5587G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*199+1187G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+1187G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.176+1187G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+1187G>A
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2370
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3705
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5196
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.385e-1

QD
type: SiteQuality
SIO_000300: 1.817e1

DP
type: SiteQuality
SIO_000300: 2.21018e5

FS
type: SiteQuality
SIO_000300: 4.424e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+1186C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+1186C>T

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+6546C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.122-5588C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.176+1186C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1717
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2400
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 731
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3778
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 846
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.172839506172839e-4
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.556e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 4.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -9.023e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

DP
type: SiteQuality
SIO_000300: 2.21895e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+1169T>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.122-5605T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+1169T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.212+1169T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*199+1169T>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 28
bin: 6.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1592
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 766
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2599
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.13550340651022e-3
allele num: 5284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.2686e5

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.122-5608G>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*139+1166G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+1166G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.122-5608G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+1166G>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 3904
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2621
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1593
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 2.27061e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.206+1142C>T

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.212+1142C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.122-5632C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.176+1142C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+1142C>T

GenotypeDepth
all individuals: 771
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2639
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3925
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.305483028720627e-4
allele num: 7660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

DP
type: SiteQuality
SIO_000300: 2.2739e5

QD
type: SiteQuality
SIO_000300: 1.128e1

FS
type: SiteQuality
SIO_000300: 2.036e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.577e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.313+1105T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472751
ensembl transcript: ENST00000601636
gene symbol: CTC-429P9.4
hgvsc: ENST00000601636.1:c.176+1105T>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*199+1105T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.122-5669T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+1105T>G

GenotypeDepth
all individuals: 2622
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 746
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1471
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3911
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 2.26016e5

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.026e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.122-5737T>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.213-37T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+6397T>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.206+1037T>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.122-5737T>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1569
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1280
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2036
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1794
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1547
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1452
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.463054187192118e-3
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.28e-1

FS
type: SiteQuality
SIO_000300: 4.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

DP
type: SiteQuality
SIO_000300: 1.92651e5

QD
type: SiteQuality
SIO_000300: 1.5e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*139+47T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+47T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.212+47T>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+47T>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5407T>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5407T>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8380
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13622
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3016
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11792
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14192
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3725
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606941989394183e-5
allele num: 62230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.585e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.334357e6

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+46C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5406C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.176+46C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*139+46C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5406C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+46C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11746
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14628
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13127
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3037
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8489
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4274
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5766
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608441098886959e-5
allele num: 62172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.338271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.557e0

QD
type: SiteQuality
SIO_000300: 1.556e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+45C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.166+45C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+45C>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+45C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5405C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5405C>G

GenotypeDepth
all individuals: 3059
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14831
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1230
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4273
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8527
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12904
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11714
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3612
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.339903e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.581e1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*199+44T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5404T>A

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5404T>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.212+44T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.166+44T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+44T>A

GenotypeDepth
all individuals: 11700
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 15178
bin: 2.25e1
variant carriers: 14

GenotypeDepth
all individuals: 12437
bin: 1.75e1
variant carriers: 17

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8672
bin: 2.75e1
variant carriers: 9

GenotypeDepth
all individuals: 3065
bin: 3.25e1
variant carriers: 6

GenotypeDepth
all individuals: 393
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4257
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15836
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5004
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5748
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.389660922734853e-4
allele num: 14392
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.422313483915127e-4
allele num: 8766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.25842480261891e-4
allele num: 62316
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.710801393728223e-4
allele num: 10332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

DP
type: SiteQuality
SIO_000300: 1.343656e6

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.212+41G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.313+41G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+41G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5401G>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+41G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5401G>C

GenotypeDepth
all individuals: 8946
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4217
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10850
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11487
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16685
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3146
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1234
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18907
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.517e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

VQSLOD
type: SiteQuality
SIO_000300: -7.165e-1

DP
type: SiteQuality
SIO_000300: 1.356941e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+40A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+40A>G

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5400A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5400A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5400A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5400A>G

GenotypeDepth
all individuals: 9131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10046
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4215
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11348
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17469
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1576
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5501
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.916585973163646e-5
allele num: 14458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.533e0

VQSLOD
type: SiteQuality
SIO_000300: -1.943e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.762e1

DP
type: SiteQuality
SIO_000300: 1.363448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5393G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5393G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+33G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+33G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.212+33G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5393G>A
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4086
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6040
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22029
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9623
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3373
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.935774726036899e-5
allele num: 14418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.411588e6

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+32C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.176+32C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5392C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.206+32C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+32C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.166+32C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 227
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1255
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23282
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3433
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8965
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5143
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4024
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10602
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62862
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.864782276546983e-4
allele num: 10472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.062139125653011e-4
allele num: 14548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.426044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.547e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

FS
type: SiteQuality
SIO_000300: 1.237e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+30G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.212+30G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5390G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*139+30G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+30G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+30G>A

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25200
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3933
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1251
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3882
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10984
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7953
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2960
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30571
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.866245536940401e-5
allele num: 14564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 3.136e0

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.44714e6

MQRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.576e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5388C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469918
ensembl transcript: ENST00000599310
gene symbol: SMIM7
hgvsc: ENST00000599310.1:c.212+28C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+28C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+28C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.313+28C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*199+28C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 3737
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26490
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3559
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11282
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7143
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1256
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577834579822651e-5
allele num: 63378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8021e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.312e0

DP
type: SiteQuality
SIO_000300: 1.462306e6

QD
type: SiteQuality
SIO_000300: 6.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.206+28C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+28C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.212+28C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.212+28C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5388C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+28C>G

GenotypeDepth
all individuals: 7143
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3737
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11282
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1256
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26490
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3559
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577834579822651e-5
allele num: 63378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 1.8021e1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.312e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 6.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

DP
type: SiteQuality
SIO_000300: 1.462306e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5380T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.212+20T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.176+20T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+20T>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5380T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5380T>A

GenotypeDepth
all individuals: 12571
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3720
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 402
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1268
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 29664
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3063
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1802
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4699
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 486
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.587136217598802e-4
allele num: 64118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

DP
type: SiteQuality
SIO_000300: 1.512099e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.214e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.212+15C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.210+15C>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5375C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.206+15C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.166+15C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5375C>G

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1336
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2634
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3833
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1272
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3652
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30870
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13222
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549570768897016e-5
allele num: 64534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.905e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.535144e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.675e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 2.756e1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.205G>C
hgvsp: ENSP00000472547.1:p.Val69Leu

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.205G>C
hgvsp: ENSP00000471649.1:p.Val69Leu

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*138G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.211G>C
hgvsp: ENSP00000471355.1:p.Val71Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.245G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.211G>C
hgvsp: ENSP00000437332.1:p.Val71Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5359G>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5359G>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 1382
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4099
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33307
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 518
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1431
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1695
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.778726431874778e-4
allele num: 11244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 2.0651e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.946e0

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

DP
type: SiteQuality
SIO_000300: 1.590725e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5353A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.205A>G
hgvsp: ENSP00000417147.1:p.Met69Val
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5353A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5353A>G

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.169A>G
hgvsp: ENSP00000471293.1:p.Met57Val
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5353A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5353A>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1057
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4114
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1264
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1093
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.625e0

DP
type: SiteQuality
SIO_000300: 1.600531e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.146e1

VQSLOD
type: SiteQuality
SIO_000300: -1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.197T>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5347T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.199T>A
hgvsp: ENSP00000471355.1:p.Phe67Ile
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5347T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5347T>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5347T>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5347T>A

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15377
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34096
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 880
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4143
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1266
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1476
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.088554720133667e-4
allele num: 9576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 1.968e0

VQSLOD
type: SiteQuality
SIO_000300: -1.007e0

DP
type: SiteQuality
SIO_000300: 1.609028e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5344A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5344A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5344A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.150A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.190A>G
hgvsp: ENSP00000471649.1:p.Met64Val

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*183A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5344A>G

GenotypeDepth
all individuals: 687
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4147
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34181
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 793
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.251562890722681e-5
allele num: 15996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.612005e6

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 1.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5343G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.149G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5343G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5343G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5343G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5343G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.159G>A
hgvsp: ENSP00000471293.1:p.Met53Ile
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 34197
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 660
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15533
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4171
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1273
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 921
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.040799333888426e-4
allele num: 9608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.235e0

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 1.613485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.178e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.194T>C
hgvsp: ENSP00000433833.1:p.Met65Thr
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5342T>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5342T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.158T>C
hgvsp: ENSP00000471391.1:p.Met53Thr
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5342T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.192T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.295T>C
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15550
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1270
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4163
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34278
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.614378e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.893e0

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469918
ensembl transcript: ENST00000599310
gene symbol: SMIM7
hgvsc: ENST00000599310.1:c.182G>T
hgvsp: ENSP00000469918.1:p.Trp61Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5330G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.136G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.180G>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5330G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.182G>T
hgvsp: ENSP00000417147.1:p.Trp61Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*109G>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 15814
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 475
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34557
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 45655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.047e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.647e0

DP
type: SiteQuality
SIO_000300: 1.623045e6

MQ
type: SiteQuality
SIO_000300: 5.832e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5326C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.212C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.172C>G
hgvsp: ENSP00000472547.1:p.Leu58Val

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5326C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.132C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5326C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.178C>G
hgvsp: ENSP00000417147.1:p.Leu60Val
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 431
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 231
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4219
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 331
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34509
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 262
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15913
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.47983721790603e-3
allele num: 16218
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.625506e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5323G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.139G>T
hgvsp: ENSP00000471293.1:p.Ala47Ser
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5323G>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5323G>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5323G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.173G>T

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.139G>T
hgvsp: ENSP00000471391.1:p.Ala47Ser
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15985
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34494
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4227
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.625966e6

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*162G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5323G>A

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.169G>A
hgvsp: ENSP00000471649.1:p.Ala57Thr

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.209G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.139G>A
hgvsp: ENSP00000471391.1:p.Ala47Thr
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5323G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.175G>A
hgvsp: ENSP00000417147.1:p.Ala59Thr
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15985
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34494
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4227
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45663
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.625966e6

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5322C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5322C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.168C>T
hgvsp: ENST00000593991.1:c.168C>T(p.%3D)

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472751
ensembl transcript: ENST00000601636
gene symbol: CTC-429P9.4
hgvsc: ENST00000601636.1:c.138C>T
hgvsp: ENST00000601636.1:c.138C>T(p.%3D)

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.275C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5322C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5322C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 16008
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4236
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34488
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45737
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.626901e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.177e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.208C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5322C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.172C>G

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.138C>G
hgvsp: ENSP00000471293.1:p.Ile46Met
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.138C>G
hgvsp: ENSP00000471391.1:p.Ile46Met
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*101C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5322C>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34488
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16008
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45737
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.523775129408932e-5
allele num: 66456
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 5.02e0

DP
type: SiteQuality
SIO_000300: 1.626901e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.172A>G
hgvsp: ENSP00000471355.1:p.Ile58Val
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5320A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5320A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5320A>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.136A>G
hgvsp: ENSP00000471293.1:p.Ile46Val
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000268790
ensembl transcript: ENST00000593962
gene symbol: CTC-429P9.4
hgvsc: ENST00000593962.1:n.170A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5320A>G

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16040
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34508
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1275
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4231
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.67e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 9.994999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.552e0

VQSLOD
type: SiteQuality
SIO_000300: -9.506e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.626904e6

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.164G>A
hgvsp: ENSP00000417147.1:p.Arg55Gln
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5312G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5312G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*151G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.158G>A
hgvsp: ENSP00000472547.1:p.Arg53Gln

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5312G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.128G>A
hgvsp: ENSP00000471293.1:p.Arg43Gln
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16089
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4244
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34553
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45977
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: -1.419e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.927e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

QD
type: SiteQuality
SIO_000300: 9.48e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 3.209e0

DP
type: SiteQuality
SIO_000300: 1.628655e6

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5311C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: stop_gained
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469962
ensembl transcript: ENST00000593409
gene symbol: SMIM7
hgvsc: ENST00000593409.1:c.163C>T
hgvsp: ENSP00000469962.1:p.Arg55Ter
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5311C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5311C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*90C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*150C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5311C>T

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4242
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16109
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34515
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45907
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008514094888535e-5
allele num: 66478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.628707e6

QD
type: SiteQuality
SIO_000300: 1.13e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 2.436e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.124T>C
hgvsp: ENSP00000471391.1:p.Phe42Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5308T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.160T>C
hgvsp: ENSP00000417147.1:p.Phe54Leu
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5308T>C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5308T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5308T>C
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472751
ensembl transcript: ENST00000601636
gene symbol: CTC-429P9.4
hgvsc: ENST00000601636.1:c.124T>C
hgvsp: ENSP00000472751.1:p.Phe42Leu

GenotypeDepth
all individuals: 4224
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 450
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225640397107489e-4
allele num: 16318
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.249e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.628902e6

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.151C>T
hgvsp: ENSP00000417147.1:p.Leu51Phe
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5299C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5299C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5299C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5299C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5299C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000471649
ensembl transcript: ENST00000594509
gene symbol: CTC-429P9.4
hgvsc: ENST00000594509.1:c.145C>T
hgvsp: ENSP00000471649.1:p.Leu49Phe

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16212
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4233
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 34319
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3614
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.628204e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.803e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5282G>A

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469918
ensembl transcript: ENST00000599310
gene symbol: SMIM7
hgvsc: ENST00000599310.1:c.134G>A
hgvsp: ENSP00000469918.1:p.Arg45Gln
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000417147
ensembl transcript: ENST00000487416
gene symbol: SMIM7
hgvsc: ENST00000487416.2:c.134G>A
hgvsp: ENSP00000417147.1:p.Arg45Gln
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5282G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.168G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.98G>A
hgvsp: ENSP00000471293.1:p.Arg33Gln
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5282G>A
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33573
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4256
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 666
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 45221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522840343735866e-5
allele num: 66330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75377060680463e-4
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.754e-1

FS
type: SiteQuality
SIO_000300: 5.702e0

QD
type: SiteQuality
SIO_000300: 1.856e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.623324e6

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472547
ensembl transcript: ENST00000593991
gene symbol: CTC-429P9.4
hgvsc: ENST00000593991.1:c.127C>T
hgvsp: ENSP00000472547.1:p.Arg43Trp

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470086
ensembl transcript: ENST00000593459
gene symbol: CTC-429P9.4
hgvsc: ENST00000593459.1:c.115+5281C>T

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000433833
ensembl transcript: ENST00000481671
gene symbol: SMIM7
hgvsc: ENST00000481671.2:c.133C>T
hgvsp: ENSP00000433833.1:p.Arg45Trp
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000397349
gene symbol: SMIM7
hgvsc: ENST00000397349.2:n.234C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472751
ensembl transcript: ENST00000601636
gene symbol: CTC-429P9.4
hgvsc: ENST00000601636.1:c.97C>T
hgvsp: ENSP00000472751.1:p.Arg33Trp

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5281C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5281C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1285
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16330
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 528
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4262
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33555
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45294
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.808972503617945e-4
allele num: 66336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.623624e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 1.862e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.335e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5273A>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5273A>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.159A>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*52A>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471293
ensembl transcript: ENST00000594662
gene symbol: SMIM7
hgvsc: ENST00000594662.1:c.89A>T
hgvsp: ENSP00000471293.1:p.Asp30Val
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000470469
ensembl transcript: ENST00000595505
gene symbol: CTC-429P9.4
hgvsc: ENST00000595505.1:c.121+5273A>T

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471391
ensembl transcript: ENST00000600740
gene symbol: SMIM7
hgvsc: ENST00000600740.1:c.89A>T
hgvsp: ENSP00000471391.1:p.Asp30Val
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32693
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16340
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4234
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1423
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208095356344674e-5
allele num: 16108
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

DP
type: SiteQuality
SIO_000300: 1.613581e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.122G>A
hgvsp: ENSP00000351569.5:p.Gly41Asp
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5270G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000436448
ensembl transcript: ENST00000463051
gene symbol: SMIM7
hgvsc: ENST00000463051.1:c.*109G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*49G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5270G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5270G>A
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000469440
ensembl transcript: ENST00000597781
gene symbol: SMIM7
hgvsc: ENST00000597781.1:c.122G>A
hgvsp: ENSP00000469440.1:p.Gly41Asp
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000461364
gene symbol: SMIM7
hgvsc: ENST00000461364.1:n.156G>A
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 1545
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4233
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 423
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1284
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 32194
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16327
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 295
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1449
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 43958
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.042100875364735e-4
allele num: 9596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.587155963302753e-4
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.269563638564425e-4
allele num: 66092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.609124e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.232e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.76-4C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470601
ensembl transcript: ENST00000597711
gene symbol: SMIM7
hgvsc: ENST00000597711.1:c.121+5266C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5266C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5266C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000472562
ensembl transcript: ENST00000598278
gene symbol: SMIM7
hgvsc: ENST00000598278.1:c.121+5266C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5266C>T
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000435127
ensembl transcript: ENST00000461488
gene symbol: SMIM7
hgvsc: ENST00000461488.1:c.*49-4C>T
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 4255
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2394
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1285
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31068
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.516919486581097e-3
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.594556e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000437332
ensembl transcript: ENST00000487803
gene symbol: SMIM7
hgvsc: ENST00000487803.1:c.122-4C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000471355
ensembl transcript: ENST00000593404
gene symbol: SMIM7
hgvsc: ENST00000593404.1:c.122-4C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000268790
ensembl protein: ENSP00000472877
ensembl transcript: ENST00000600705
gene symbol: CTC-429P9.4
hgvsc: ENST00000600705.1:c.121+5266C>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000470899
ensembl transcript: ENST00000602194
gene symbol: SMIM7
hgvsc: ENST00000602194.1:c.121+5266C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000432842
ensembl transcript: ENST00000465250
gene symbol: SMIM7
hgvsc: ENST00000465250.2:c.121+5266C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl transcript: ENST00000594507
gene symbol: SMIM7
hgvsc: ENST00000594507.1:n.76-4C>G
variant of: http://identifiers.org/hgnc/28419

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000214046
ensembl protein: ENSP00000351569
ensembl transcript: ENST00000358726
gene symbol: SMIM7
hgvsc: ENST00000358726.6:c.122-4C>G
variant of: http://identifiers.org/hgnc/28419

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4255
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1285
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2394
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31068
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0