2-130930243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930243
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930243
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2244C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3884C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.579C>T
  hgvsp: ENST00000351288.6:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.240C>T
  hgvsp: ENST00000339679.7:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2244C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.65C>T
  hgvsp: ENST00000439886.1:c.65C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3884C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2244C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.360C>T
  hgvsp: ENST00000431183.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3884C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.579C>T
  hgvsp: ENST00000409031.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3884C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe193Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-130930246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930246
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.576G>A
  hgvsp: ENST00000351288.6:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2241G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.237G>A
  hgvsp: ENST00000339679.7:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3881G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.576G>A
  hgvsp: ENST00000409031.1:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.62G>A
  hgvsp: ENST00000439886.1:c.62G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3881G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.357G>A
  hgvsp: ENST00000431183.2:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2241G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3881G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2241G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3881G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro192Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-130930247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930247
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.356C>T
  hgvsp: ENSP00000405187.2:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3880C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.61C>T
  hgvsp: ENSP00000401648.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.575C>T
  hgvsp: ENSP00000259217.8:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.236C>T
  hgvsp: ENSP00000339721.7:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3880C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2240C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.575C>T
  hgvsp: ENSP00000386531.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3880C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*162C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3880C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2240C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2240C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro192Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-130930260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930260
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3867C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2227C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3867C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2227C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3867C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2227C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3867C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-10C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-10C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-130930261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930261
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3866G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2226G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2226G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2226G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3866G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-11G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3866G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3866G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-130930262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930262
    reference: chr 2
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2225C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3865C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3865C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3865C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2225C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2225C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-12C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3865C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

2-130930265-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930263
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-17_353-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3860_-84+3861delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-17_58-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2220_126+2221delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3860_-146+3861delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2220_126+2221delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3860_150+3861delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-17_*229-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-17_572-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-17_572-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-17_*159-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2220_243+2221delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-17_233-16delCC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3860_-84+3861delCC
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: AGG
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-130930267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930267
    reference: chr 2
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2220C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2220C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3860C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3860C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2220C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3860C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-17C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3860C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-130930276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930276
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930276
    reference: chr 2
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2211A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3851A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3851A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2211A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2211A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3851A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3851A>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-130930278-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930278
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2209G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3849G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3849G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3849G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2209G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-28G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2209G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3849G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-28G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-130930288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930288
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2199C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3839C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2199C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-38C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3839C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2199C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3839C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3839C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-38C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-130930293-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930294
    reference: chr 2
allele count: 15
allele frequency: 1.236175438018163e-4
allele num: 121342
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2193dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2193dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3833dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3833dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3833dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2193dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-44dupG
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3833dupG
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-130930295-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930295
    reference: chr 2
allele count: 5
allele frequency: 4.119634176485128e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2192G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2192G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3832G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3832G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2192G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3832G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-45G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3832G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-130930297-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930297
    reference: chr 2
allele count: 10
allele frequency: 8.238861059847087e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2190G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2190G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2190G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3830G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-47G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3830G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3830G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3830G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-47G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-130930299-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930299
    reference: chr 2
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3828G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3828G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2188G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2188G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3828G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3828G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2188G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-49G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-49G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-130930299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930299
    reference: chr 2
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3828G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2188G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3828G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3828G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2188G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2188G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-49G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3828G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-49G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

2-130930300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930300
    reference: chr 2
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.353-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2187C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3827C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3827C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.58-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2187C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*159-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.572-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*229-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2187C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.572-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3827C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.233-50C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3827C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-130930309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930309
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2178G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.232+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.57+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3818G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*158+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3818G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3818G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*228+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2178G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2178G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.571+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.352+51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3818G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.571+51G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-130930324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930324
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*158+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.571+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3803G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.57+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.232+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.352+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3803G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2163G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.571+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3803G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2163G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*228+36G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2163G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3803G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-130930325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930325
    reference: chr 2
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3802G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2162G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*158+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3802G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.571+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3802G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*228+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2162G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2162G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.352+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.57+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.232+35G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3802G>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.571+35G>C
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-130930355-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930355
    reference: chr 2
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3772C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3772C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.57+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.232+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.571+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.352+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2132C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2132C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*228+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3772C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.571+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*158+5C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2132C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3772C>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.571+5C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

2-130930360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930360
    reference: chr 2
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2127A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*228A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2127A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.232A>G
  hgvsp: ENSP00000339721.7:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3767A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.352A>G
  hgvsp: ENSP00000405187.2:p.Asn118Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3767A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2127A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3767A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.571A>G
  hgvsp: ENSP00000259217.8:p.Asn191Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3767A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.571A>G
  hgvsp: ENSP00000386531.1:p.Asn191Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.57A>G
  hgvsp: ENSP00000401648.1:p.Asn20Asp
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn191Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-130930364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930364
    reference: chr 2
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.567C>T
  hgvsp: ENST00000409031.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.228C>T
  hgvsp: ENST00000339679.7:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2123C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.567C>T
  hgvsp: ENST00000351288.6:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3763C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3763C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2123C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.53C>T
  hgvsp: ENST00000439886.1:c.53C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3763C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.348C>T
  hgvsp: ENST00000431183.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2123C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3763C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala189Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-130930366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930366
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.346G>T
  hgvsp: ENSP00000405187.2:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3761G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3761G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.565G>T
  hgvsp: ENSP00000386531.1:p.Ala189Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*152G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.565G>T
  hgvsp: ENSP00000259217.8:p.Ala189Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2121G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.51G>T
  hgvsp: ENSP00000401648.1:p.Ala18Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2121G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3761G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*222G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.226G>T
  hgvsp: ENSP00000339721.7:p.Ala76Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3761G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2121G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala189Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-130930369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930369
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.343T>C
  hgvsp: ENST00000431183.2:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2118T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3758T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3758T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.562T>C
  hgvsp: ENST00000409031.1:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*219T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*149T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2118T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2118T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.562T>C
  hgvsp: ENST00000351288.6:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.48T>C
  hgvsp: ENST00000439886.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3758T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.223T>C
  hgvsp: ENST00000339679.7:c.223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3758T>C
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu188Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-130930373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930373
    reference: chr 2
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3754G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2114G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.219G>A
  hgvsp: ENST00000339679.7:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3754G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.558G>A
  hgvsp: ENST00000409031.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3754G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.558G>A
  hgvsp: ENST00000351288.6:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.339G>A
  hgvsp: ENST00000431183.2:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2114G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.44G>A
  hgvsp: ENST00000439886.1:c.44G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3754G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2114G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu186Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

2-130930375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930375
    reference: chr 2
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2112C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3752C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.42C>T
  hgvsp: ENST00000439886.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3752C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.217C>T
  hgvsp: ENST00000339679.7:c.217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2112C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2112C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3752C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.556C>T
  hgvsp: ENST00000351288.6:c.556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.337C>T
  hgvsp: ENST00000431183.2:c.337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.556C>T
  hgvsp: ENST00000409031.1:c.556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3752C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu186Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-130930377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930377
    reference: chr 2
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3750G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.554G>T
  hgvsp: ENSP00000386531.1:p.Gly185Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3750G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.40G>T
  hgvsp: ENSP00000401648.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*141G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3750G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.335G>T
  hgvsp: ENSP00000405187.2:p.Gly112Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2110G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.215G>T
  hgvsp: ENSP00000339721.7:p.Gly72Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3750G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*211G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.554G>T
  hgvsp: ENSP00000259217.8:p.Gly185Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2110G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2110G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly185Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-130930377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930377
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2110G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3750G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.40G>A
  hgvsp: ENSP00000401648.1:p.Gly14Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.335G>A
  hgvsp: ENSP00000405187.2:p.Gly112Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.554G>A
  hgvsp: ENSP00000386531.1:p.Gly185Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.554G>A
  hgvsp: ENSP00000259217.8:p.Gly185Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3750G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2110G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.215G>A
  hgvsp: ENSP00000339721.7:p.Gly72Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2110G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3750G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3750G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly185Asp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS

2-130930383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930383
    reference: chr 2
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2104G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.548G>A
  hgvsp: ENSP00000259217.8:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.209G>A
  hgvsp: ENSP00000339721.7:p.Gly70Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.329G>A
  hgvsp: ENSP00000405187.2:p.Gly110Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.34G>A
  hgvsp: ENSP00000401648.1:p.Gly12Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3744G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3744G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.548G>A
  hgvsp: ENSP00000386531.1:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2104G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3744G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3744G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2104G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly183Asp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-130930389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930389
    reference: chr 2
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2098C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.542C>T
  hgvsp: ENSP00000386531.1:p.Thr181Ile
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.28C>T
  hgvsp: ENSP00000401648.1:p.Thr10Ile
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.542C>T
  hgvsp: ENSP00000259217.8:p.Thr181Ile
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.203C>T
  hgvsp: ENSP00000339721.7:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3738C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2098C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3738C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3738C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.323C>T
  hgvsp: ENSP00000405187.2:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2098C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3738C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*199C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr181Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-130930393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930393
    reference: chr 2
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3734C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.24C>T
  hgvsp: ENSP00000401648.1:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.538C>T
  hgvsp: ENSP00000386531.1:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3734C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3734C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2094C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.199C>T
  hgvsp: ENSP00000339721.7:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.538C>T
  hgvsp: ENSP00000259217.8:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*195C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2094C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.319C>T
  hgvsp: ENSP00000405187.2:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2094C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3734C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro180Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-130930407-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930407
    reference: chr 2
allele count: 1
allele frequency: 8.432271991365354e-6
allele num: 118592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*181A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3720A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.524A>C
  hgvsp: ENSP00000386531.1:p.Lys175Thr
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2080A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.185A>C
  hgvsp: ENSP00000339721.7:p.Lys62Thr
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3720A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3720A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.305A>C
  hgvsp: ENSP00000405187.2:p.Lys102Thr
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2080A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3720A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.407A>C
  hgvsp: ENST00000441135.1:c.407A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.10A>C
  hgvsp: ENSP00000401648.1:p.Lys4Thr
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.524A>C
  hgvsp: ENSP00000259217.8:p.Lys175Thr
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*111A>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2080A>C
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys175Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

2-130930410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930410
    reference: chr 2
allele count: 3
allele frequency: 2.550630005611386e-5
allele num: 117618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000401648
  ensembl transcript: ENST00000439886
  gene symbol: SMPD4
  hgvsc: ENST00000439886.1:c.7A>G
  hgvsp: ENSP00000401648.1:p.Asn3Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.521A>G
  hgvsp: ENSP00000259217.8:p.Asn174Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*108A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.404A>G
  hgvsp: ENSP00000406458.1:p.Asn135Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.521A>G
  hgvsp: ENSP00000386531.1:p.Asn174Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3717A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.182A>G
  hgvsp: ENSP00000339721.7:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3717A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2077A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2077A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.302A>G
  hgvsp: ENSP00000405187.2:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*178A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2077A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3717A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3717A>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn174Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-130930418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930418
    reference: chr 2
allele count: 2
allele frequency: 1.755895418868852e-5
allele num: 113902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.294G>A
  hgvsp: ENST00000431183.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.174G>A
  hgvsp: ENST00000339679.7:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3709G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.513G>A
  hgvsp: ENST00000351288.6:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*100G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.513G>A
  hgvsp: ENST00000409031.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2069G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3709G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2069G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3709G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3709G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.396G>A
  hgvsp: ENST00000441135.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2069G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu171Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-130930425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930425
    reference: chr 2
allele count: 2
allele frequency: 1.822323462414579e-5
allele num: 109750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3702G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2062G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2062G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.389G>A
  hgvsp: ENSP00000406458.1:p.Ser130Asn
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.167G>A
  hgvsp: ENSP00000339721.7:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3702G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2062G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*93G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.287G>A
  hgvsp: ENSP00000405187.2:p.Ser96Asn
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3702G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.506G>A
  hgvsp: ENSP00000259217.8:p.Ser169Asn
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3702G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.506G>A
  hgvsp: ENSP00000386531.1:p.Ser169Asn
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser169Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-130930454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930454
    reference: chr 2
allele count: 2
allele frequency: 2.204342554833021e-5
allele num: 90730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.138G>A
  hgvsp: ENST00000339679.7:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3673G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3673G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.360G>A
  hgvsp: ENST00000441135.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.477G>A
  hgvsp: ENST00000409031.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.477G>A
  hgvsp: ENST00000351288.6:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2033G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3673G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.258G>A
  hgvsp: ENST00000431183.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*64G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2033G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3673G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2033G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala159Ala
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: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-130930455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930455
    reference: chr 2
allele count: 1
allele frequency: 1.115349438979232e-5
allele num: 89658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3672C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.476C>T
  hgvsp: ENSP00000259217.8:p.Ala159Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2032C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.476C>T
  hgvsp: ENSP00000386531.1:p.Ala159Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.137C>T
  hgvsp: ENSP00000339721.7:p.Ala46Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3672C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2032C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3672C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.257C>T
  hgvsp: ENSP00000405187.2:p.Ala86Val
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3672C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2032C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.359C>T
  hgvsp: ENSP00000406458.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala159Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-130930462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930462
    reference: chr 2
allele count: 1
allele frequency: 1.169809555004445e-5
allele num: 85484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3665G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.130G>A
  hgvsp: ENSP00000339721.7:p.Val44Met
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.469G>A
  hgvsp: ENSP00000259217.8:p.Val157Met
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.469G>A
  hgvsp: ENSP00000386531.1:p.Val157Met
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2025G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3665G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2025G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2025G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.250G>A
  hgvsp: ENSP00000405187.2:p.Val84Met
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3665G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3665G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.352G>A
  hgvsp: ENSP00000406458.1:p.Val118Met
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val157Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-130930469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930469
    reference: chr 2
allele count: 1
allele frequency: 1.201749747632553e-5
allele num: 83212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3658G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2018G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2018G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2018G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3658G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3658G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-1G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3658G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.463-1G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-130930472-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930470
    reference: chr 2
allele count: 13
allele frequency: 1.609747641100572e-4
allele num: 80758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-6_244-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3653_-84+3654delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-6_*50-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-6_346-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2013_126+2014delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-6_463-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3653_-84+3654delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-6_124-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2013_126+2014delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3653_150+3654delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-6_463-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-6_*120-5delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3653_-146+3654delCT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2013_243+2014delCT
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20042
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.463-6_463-5delCT
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: CAG
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-130930476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930476
    reference: chr 2
allele count: 2
allele frequency: 2.524997475002525e-5
allele num: 79208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2011C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3651C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2011C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-8C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3651C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3651C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2011C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3651C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.463-8C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-130930481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930481
    reference: chr 2
allele count: 1
allele frequency: 1.280934569862171e-5
allele num: 78068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2006C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3646C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3646C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3646C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2006C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2006C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3646C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-13C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-13C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-130930482-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930483
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 77600
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3644dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2004dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3644dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2004dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2004dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3644dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3644dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-15dupT
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-15dupT
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18591
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-130930484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930484
    reference: chr 2
allele count: 14
allele frequency: 1.840506928193937e-4
allele num: 76066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+2003C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+2003C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3643C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3643C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+2003C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3643C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-16C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3643C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20971
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-130930494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930494
    reference: chr 2
allele count: 11
allele frequency: 1.5218594355285e-4
allele num: 72280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3633A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3633A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3633A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1993A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1993A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3633A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1993A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-26A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-26A>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21199
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-130930494-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930495
    reference: chr 2
allele count: 782
allele frequency: 1.081903707802988e-2
allele num: 72280
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1992dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3632dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1992dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1992dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3632dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-27dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3632dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3632dupC
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-27dupC
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 21199
  bin: 1.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 7.5e0
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 17
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-130930498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930498
    reference: chr 2
allele count: 1
allele frequency: 1.451041848046898e-5
allele num: 68916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3629G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1989G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1989G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3629G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3629G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3629G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-30G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1989G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-30G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

2-130930500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930500
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 66424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1987C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3627C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1987C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3627C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3627C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-32C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1987C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3627C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-32C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

2-130930501-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930501
    reference: chr 2
allele count: 2
allele frequency: 3.089184764140744e-5
allele num: 64742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1986C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1986C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1986C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3626C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3626C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3626C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-33C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3626C>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-33C>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19381
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-130930507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930507
    reference: chr 2
allele count: 1
allele frequency: 1.6933653943848e-5
allele num: 59054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1980C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1980C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1980C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3620C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3620C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3620C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-39C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3620C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-39C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17063
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-130930510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930510
    reference: chr 2
allele count: 1
allele frequency: 1.811594202898551e-5
allele num: 55200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3617G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3617G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1977G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1977G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3617G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1977G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3617G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-42G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-42G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

2-130930511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930511
    reference: chr 2
allele count: 4
allele frequency: 7.257947452460444e-5
allele num: 55112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1976C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1976C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3616C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3616C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1976C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3616C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-43C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3616C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-130930513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930513
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 52490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3614T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3614T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3614T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1974T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1974T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3614T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-45T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1974T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-45T>C
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-130930519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930519
    reference: chr 2
allele count: 10
allele frequency: 2.218278615794144e-4
allele num: 45080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3608G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1968G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3608G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1968G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1968G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3608G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-51G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3608G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-51G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25696
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-130930520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930520
    reference: chr 2
allele count: 18
allele frequency: 4.12900857916227e-4
allele num: 43594
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.463-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3607C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3607C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*120-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1967C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.346-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3607C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1967C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1967C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3607C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*50-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.463-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.124-52C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-52C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25800
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

2-130930802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930802
    reference: chr 2
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3325A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3325A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3325A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1685A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1685A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+50A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3325A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1685A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+50A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+285A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+50A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+50A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+50A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-334A>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-130930806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930806
    reference: chr 2
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3321T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+46T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-338T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1681T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3321T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3321T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+46T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+46T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3321T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+281T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+46T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1681T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1681T>C
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+46T>C
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-130930807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930807
    reference: chr 2
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+45C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+45C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+45C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1680C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-339C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3320C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+45C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1680C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+280C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3320C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3320C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+45C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3320C>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1680C>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-130930811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930811
    reference: chr 2
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+41G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+276G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+41G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1676G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1676G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3316G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-343G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+41G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3316G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+41G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3316G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1676G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+41G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3316G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-130930813-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930813
    reference: chr 2
allele count: 9
allele frequency: 7.433593233778247e-5
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1674G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3314G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+39G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+39G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3314G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+39G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+39G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1674G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3314G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1674G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+274G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+39G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3314G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-345G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-130930816-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930816
    reference: chr 2
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+36G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3311G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+271G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-348G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+36G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+36G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+36G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3311G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3311G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1671G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1671G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+36G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1671G>T
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3311G>T
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-130930819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930819
    reference: chr 2
allele count: 45879
allele frequency: 3.788083953960731e-1
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1668G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3308G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+33G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3308G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+33G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3308G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1668G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3308G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1668G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+33G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+33G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+268G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+33G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-351G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 6.25e1
  variant carriers: 2486
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 4.75e1
  variant carriers: 1050
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.25e1
  variant carriers: 1532
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 8.25e1
  variant carriers: 2987
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 499
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 2088
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 7.25e1
  variant carriers: 3060
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 2869
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 7.75e1
  variant carriers: 3161
genotype quality: GenotypeQuality
num of homozygotes: 8900
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-130930829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930829
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+23A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3298A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1658A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+23A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3298A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1658A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3298A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-361A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+23A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3298A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+23A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+23A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+258A>G
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1658A>G
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-130930832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130930832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130930832
    reference: chr 2
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397278
  ensembl transcript: ENST00000433118
  gene symbol: SMPD4
  hgvsc: ENST00000433118.1:c.126+1655G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000397479
  ensembl transcript: ENST00000426662
  gene symbol: SMPD4
  hgvsc: ENST00000426662.2:c.-84+3295G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000394313
  ensembl transcript: ENST00000453750
  gene symbol: SMPD4
  hgvsc: ENST00000453750.1:c.243+1655G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000386531
  ensembl transcript: ENST00000409031
  gene symbol: SMPD4
  hgvsc: ENST00000409031.1:c.462+20G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000387762
  ensembl transcript: ENST00000452225
  gene symbol: SMPD4
  hgvsc: ENST00000452225.2:c.-84+3295G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl transcript: ENST00000473720
  gene symbol: SMPD4
  hgvsc: ENST00000473720.1:n.150+3295G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000407591
  ensembl transcript: ENST00000454468
  gene symbol: SMPD4
  hgvsc: ENST00000454468.1:c.*49+20G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000391896
  ensembl transcript: ENST00000443958
  gene symbol: SMPD4
  hgvsc: ENST00000443958.2:c.-146+3295G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000405187
  ensembl transcript: ENST00000431183
  gene symbol: SMPD4
  hgvsc: ENST00000431183.2:c.244-364G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000339721
  ensembl transcript: ENST00000339679
  gene symbol: SMPD4
  hgvsc: ENST00000339679.7:c.123+255G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000416208
  ensembl transcript: ENST00000439029
  gene symbol: SMPD4
  hgvsc: ENST00000439029.1:c.126+1655G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000403002
  ensembl transcript: ENST00000412570
  gene symbol: SMPD4
  hgvsc: ENST00000412570.1:c.*119+20G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000406458
  ensembl transcript: ENST00000441135
  gene symbol: SMPD4
  hgvsc: ENST00000441135.1:c.345+20G>A
  variant of: http://identifiers.org/hgnc/32949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136699
  ensembl protein: ENSP00000259217
  ensembl transcript: ENST00000351288
  gene symbol: SMPD4
  hgvsc: ENST00000351288.6:c.462+20G>A
  variant of: http://identifiers.org/hgnc/32949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13047
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1160
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2053
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.551e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.512e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 2.230336e6

MQ
type: SiteQuality
SIO_000300: 5.343e1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.336e0

VQSLOD
type: SiteQuality
SIO_000300: -2.118e0

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

GenotypeDepth
all individuals: 2053
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8824
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: -3.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e0

FS
type: SiteQuality
SIO_000300: 1.1765e1

MQ
type: SiteQuality
SIO_000300: 5.475e1

DP
type: SiteQuality
SIO_000300: 2.230493e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

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

GenotypeDepth
all individuals: 5749
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16617
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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South Asian
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African
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East Asian
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European (Finnish)
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66720
num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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East Asian
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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MQ
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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African
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FS
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DP
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.997512064986062e-5
allele num: 66722
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Other
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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FS
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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FS
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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Latino
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African
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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MQRankSum
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FS
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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allele frequency: 0.0e0
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Latino
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Other
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InbreedingCoeff
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FS
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QD
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66710
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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FS
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SIO_000300: 8.169999999999999e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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DP
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FS
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10362
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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East Asian
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South Asian
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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DP
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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QD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Other
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QD
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Other
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African
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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African
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allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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allele num: 66336
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QD
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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Latino
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African
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European (Non-Finnish)
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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QD
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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South Asian
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MQ
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VQSLOD
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QD
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.257703433530374e-4
allele num: 15902
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62666
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

FS
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 4.174e1

ReadPosRankSum
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SIO_000300: -8.52e-1

QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.308738378056447e-5
allele num: 60446
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.009161777706341e-5
allele num: 49772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

South Asian
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allele frequency: 7.106310403638431e-5
allele num: 14072
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -4.9e-3

ClippingRankSum
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FS
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MQ
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SIO_000300: 3.888e1

BaseQRankSum
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SIO_000300: 2.93e0

ReadPosRankSum
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SIO_000300: -3.66e-1

MQRankSum
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SIO_000300: 1.48e0

QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.349527665317139e-4
allele num: 7410
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -4.53e-1

QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.11e-1

FS
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BaseQRankSum
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SIO_000300: -9.350000000000001e-1

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.446340757882557e-4
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num of homozygotes: 0

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

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

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

African
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allele frequency: 2.727024815925825e-4
allele num: 7334
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Latino
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East Asian
type: Population
allele count: 8
allele frequency: 1.582278481012658e-3
allele num: 5056
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.771703309105683e-5
allele num: 44302
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: -6.9e-3

VQSLOD
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DP
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ReadPosRankSum
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SIO_000300: -2.71e-1

ClippingRankSum
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SIO_000300: 3.1e-2

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 4.105090311986864e-4
allele num: 4872
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43448
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.036e1

DP
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SIO_000300: 9.28679e5

FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

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

South Asian
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allele frequency: 7.67341927562922e-5
allele num: 13032
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42836
num of homozygotes: 0

Latino
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
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SIO_000300: 9.2049e5

FS
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SIO_000300: 4.439e0

QD
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BaseQRankSum
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SIO_000300: -4.487e0

ClippingRankSum
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SIO_000300: -3.316e0

MQ
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SIO_000300: 3.871e1

VQSLOD
type: SiteQuality
SIO_000300: -4.768e0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
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SIO_000300: 3.18e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
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SIO_000300: 9.15758e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 3.732e1

ReadPosRankSum
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SIO_000300: 1.75e0

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

InbreedingCoeff
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SIO_000300: -9.299999999999999e-3

GenotypeDepth
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variant carriers: 1

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

South Asian
type: Population
allele count: 14
allele frequency: 1.083759095835269e-3
allele num: 12918
num of homozygotes: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41852
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -9.2e-3

ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
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allele frequency: 7.945336087716511e-4
allele num: 12586
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Other
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East Asian
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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SIO_000300: 1.35e-1

GenotypeDepth
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variant carriers: 14

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

Latino
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allele count: 65
allele frequency: 1.225952470765749e-2
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num of homozygotes: 0

African
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allele count: 548
allele frequency: 8.22328931572629e-2
allele num: 6664
num of homozygotes: 16

South Asian
type: Population
allele count: 8
allele frequency: 6.356268870173208e-4
allele num: 12586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 155
allele frequency: 3.918297183881895e-3
allele num: 39558
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 1.048951048951049e-2
allele num: 572
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 8.49341e5

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.649006622516556e-5
allele num: 37750
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.66e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.88e-2

DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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SIO_000300: 5.04e1

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

South Asian
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allele count: 1
allele frequency: 8.347245409015025e-5
allele num: 11980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.825816661015033e-5
allele num: 35388
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
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DP
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SIO_000300: 7.81562e5

BaseQRankSum
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SIO_000300: 9.78e-1

ReadPosRankSum
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QD
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MQ
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SIO_000300: 4.76e1

FS
type: SiteQuality
SIO_000300: 2.905e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.102891895246369e-5
allele num: 32228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: 2.78e-1

MQ
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SIO_000300: 4.569e1

ReadPosRankSum
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SIO_000300: 1.04e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.332444681418288e-5
allele num: 30008
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

African
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allele num: 5222
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Other
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European (Non-Finnish)
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allele frequency: 1.00193707835148e-4
allele num: 29942
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South Asian
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East Asian
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28404
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

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

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

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

DP
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SIO_000300: 7.09793e5

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

European (Non-Finnish)
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allele count: 2
allele frequency: 8.338197281747686e-5
allele num: 23986
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 2.012072434607646e-3
allele num: 1988
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African
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Other
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South Asian
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allele frequency: 3.852822192255828e-4
allele num: 10382
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
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allele count: 16
allele frequency: 3.859141341051616e-3
allele num: 4146
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 8.624407072013799e-5
allele num: 23190
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: -1.38e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 2.78e-1

DP
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SIO_000300: 6.91654e5

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
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SIO_000300: 4.005e1

InbreedingCoeff
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SIO_000300: 1.5e-3

FS
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ClippingRankSum
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QD
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DP
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VQSLOD
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MQRankSum
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SIO_000300: -2.3e-1

BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.499430216517723e-5
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num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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FS
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QD
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Other
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48426
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349365798074905e-4
allele num: 66698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 4.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.403e0

DP
type: SiteQuality
SIO_000300: 3.299378e6

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeDepth
all individuals: 7504
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4058
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3918
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.989e1

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 3.3004e6

FS
type: SiteQuality
SIO_000300: 1.8982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.678e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 7.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

GenotypeDepth
all individuals: 3486
bin: 4.25e1
variant carriers: 704

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 19

GenotypeDepth
all individuals: 2638
bin: 9.25e1
variant carriers: 2450

GenotypeDepth
all individuals: 2968
bin: 8.75e1
variant carriers: 2731

GenotypeDepth
all individuals: 11389
bin: 9.75e1
variant carriers: 10622

GenotypeQuality
all individuals: 1068
bin: 7.75e1
variant carriers: 27

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 52139
bin: 9.75e1
variant carriers: 36751

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 19

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2398
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1244
bin: 9.25e1
variant carriers: 46

GenotypeQuality
all individuals: 1057
bin: 8.25e1
variant carriers: 34

South Asian
type: Population
allele count: 6601
allele frequency: 3.998667312818028e-1
allele num: 16508
num of homozygotes: 1373

European (Finnish)
type: Population
allele count: 2472
allele frequency: 3.739788199697428e-1
allele num: 6610
num of homozygotes: 483

European (Non-Finnish)
type: Population
allele count: 24818
allele frequency: 3.721285911353686e-1
allele num: 66692
num of homozygotes: 4661

Other
type: Population
allele count: 342
allele frequency: 3.766519823788546e-1
allele num: 908
num of homozygotes: 57

Latino
type: Population
allele count: 4957
allele frequency: 4.283615623919806e-1
allele num: 11572
num of homozygotes: 1075

African
type: Population
allele count: 2686
allele frequency: 2.634366418203217e-1
allele num: 10196
num of homozygotes: 354

East Asian
type: Population
allele count: 4003
allele frequency: 4.639545665275846e-1
allele num: 8628
num of homozygotes: 897

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

DP
type: SiteQuality
SIO_000300: 4.314345e6

FS
type: SiteQuality
SIO_000300: 1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.484e-1

MQ
type: SiteQuality
SIO_000300: 4.149e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.712e1

GenotypeDepth
all individuals: 4524
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7203
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6979
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40541
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
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variant carriers: 0

GenotypeQuality
all individuals: 3137
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

MQ
type: SiteQuality
SIO_000300: 4.279e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.95e0

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 3.177679e6

GenotypeDepth
all individuals: 2492
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4524
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5719
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40541
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

MQ
type: SiteQuality
SIO_000300: 4.292e1